Human (GRCh38.p14)
Description

aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:HGNC:757]

Gene Synonyms

BAH, CASQ2BP1, HAAH, JCTN

Location
About this transcript

This transcript has 25 exons, is annotated with 50 domains and features, is associated with 87486 variant alleles and maps to 1030 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000379454.9ASPH-2035301758aaENSP00000368767.4
 
Protein coding
CCDS34898Q12797-1 NM_004318.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3TSL:1
ENST00000517856.5ASPH-2086337113aaENSP00000429743.1
 
Protein coding
E5RHJ2 -GENCODE basicTSL:2
ENST00000356457.9ASPH-2013730313aaENSP00000348841.5
 
Protein coding
CCDS43742Q12797-2 -GENCODE basicTSL:1
ENST00000445642.6ASPH-2053717294aaENSP00000394013.4
 
Protein coding
CCDS75746Q12797-11 -GENCODE basicTSL:2
ENST00000517847.7ASPH-2073583299aaENSP00000429954.2
 
Protein coding
CCDS47866Q12797-8 -GENCODE basicTSL:5
ENST00000389204.9ASPH-2043234225aaENSP00000373856.4
 
Protein coding
CCDS34900Q12797-3 -GENCODE basicTSL:1
ENST00000519234.5ASPH-2142874327aaENSP00000427823.1
 
Protein coding
E5RG56 -GENCODE basicTSL:5
ENST00000518068.5ASPH-2112744270aaENSP00000429286.1
 
Protein coding
CCDS55237Q12797-6 -GENCODE basicTSL:1
ENST00000517903.5ASPH-2092658298aaENSP00000430245.1
 
Protein coding
CCDS55236Q12797-5 -GENCODE basicTSL:1
ENST00000541428.5ASPH-2302550729aaENSP00000437864.1
 
Protein coding
CCDS55234Q12797-10 -GENCODE basicAPPRIS ALT2TSL:2
ENST00000379449.11ASPH-2021649203aaENSP00000368762.5
 
Protein coding
CCDS55238Q12797-7 -GENCODE basicTSL:1
ENST00000522919.5ASPH-2261277163aaENSP00000430516.1
 
Protein coding
E5RJL3 -GENCODE basicTSL:3
ENST00000522835.5ASPH-2251258256aaENSP00000429160.1
 
Protein coding
CCDS55235Q12797-9 -GENCODE basicTSL:2
ENST00000522603.5ASPH-224842210aaENSP00000436188.1
 
Protein coding
CCDS34899Q12797-4 -GENCODE basicTSL:1
ENST00000517661.5ASPH-206809174aaENSP00000428060.1
 
Protein coding
G3XAN5 -GENCODE basicTSL:2
ENST00000518306.5ASPH-212755198aaENSP00000427877.1
 
Protein coding
E5RG29 -TSL:5CDS 3' incomplete
ENST00000524173.5ASPH-229587195aaENSP00000479945.1
 
Protein coding
A0A087WW51 -TSL:4CDS 5' and 3' incomplete
ENST00000523927.5ASPH-228556186aaENSP00000478706.1
 
Protein coding
A0A087WUJ2 -TSL:4CDS 5' and 3' incomplete
ENST00000519678.5ASPH-216536134aaENSP00000483443.1
 
Protein coding
A0A087X0J4 -TSL:3CDS 5' incomplete
ENST00000522349.5ASPH-223531136aaENSP00000429718.1
 
Protein coding
E5RHK2 -TSL:5CDS 3' incomplete
ENST00000519264.5ASPH-21533744aaENSP00000479830.1
 
Protein coding
A0A087WW05 -TSL:5CDS 5' incomplete
ENST00000523897.5ASPH-227871No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000517928.1ASPH-210548No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000522343.1ASPH-222329No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000521909.1ASPH-219851No protein-
 
Retained intron
--TSL:3
ENST00000518441.1ASPH-213781No protein-
 
Retained intron
--TSL:2
ENST00000522325.1ASPH-221665No protein-
 
Retained intron
--TSL:1
ENST00000522036.1ASPH-220663No protein-
 
Retained intron
--TSL:3
ENST00000520198.1ASPH-217544No protein-
 
Retained intron
--TSL:4
ENST00000521499.5ASPH-218484No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 25, Coding exons: 25, Transcript length: 5,301 bps, Translation length: 758 residues

MANE

This MANE Select transcript contains ENSP00000368767 and matches to NM_004318.4 and NP_004309.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q12797

CCDS

This transcript is a member of the Human CCDS set: CCDS34898

Transcript Support Level (TSL)

TSL:1

Version

ENST00000379454.9

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.