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 11 exons, is annotated with 9 domains and features, is associated with 34262 variant alleles and maps to 241 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: 11, Coding exons: 11, Transcript length: 587 bps, Translation length: 195 residues

Transcript Support Level (TSL)

TSL:4

Incomplete CDS

CDS 5' and 3' incomplete

Version

ENST00000524173.5

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.