Human (GRCh38.p14)
Description

hexosaminidase D [Source:HGNC Symbol;Acc:HGNC:26307]

Gene Synonyms

FLJ23825, HEXDC

Location
About this transcript

This transcript has 13 exons, is annotated with 7 domains and features, is associated with 12801 variant alleles and maps to 436 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000327949.15HEXD-2012167486aaENSP00000332634.9
 
Protein coding
CCDS82231Q8WVB3-1 NM_001330542.2MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000337014.10HEXD-2022285585aaENSP00000337854.6
 
Protein coding
CCDS42402Q8WVB3-2 -GENCODE basicTSL:1
ENST00000577944.5HEXD-2031820544aaENSP00000463129.1
 
Protein coding
J3QKL0 -GENCODE basicTSL:5
ENST00000644009.1HEXD-2161461486aaENSP00000496193.1
 
Protein coding
CCDS82231Q8WVB3-1 -GENCODE basicAPPRIS P1
ENST00000578130.5HEXD-204853214aaENSP00000462000.1
 
Protein coding
J3KRH3 -TSL:2CDS 5' incomplete
ENST00000580235.5HEXD-208638117aaENSP00000462856.1
 
Protein coding
J3KT84 -TSL:3CDS 3' incomplete
ENST00000578632.1HEXD-20658278aaENSP00000463625.1
 
Protein coding
J3QLN1 -TSL:4CDS 3' incomplete
ENST00000578775.2HEXD-2071969115aaENSP00000462303.3
 
Nonsense mediated decay
J3KS46 -TSL:3
ENST00000582429.5HEXD-2121824361aaENSP00000464912.1
 
Nonsense mediated decay
K7EIV9 -TSL:2CDS 5' incomplete
ENST00000582315.5HEXD-21187347aaENSP00000462923.1
 
Nonsense mediated decay
J3KTD0 -TSL:5
ENST00000578616.5HEXD-20586288aaENSP00000463241.1
 
Nonsense mediated decay
J3QKU6 -TSL:3CDS 5' incomplete
ENST00000583354.5HEXD-21368680aaENSP00000465465.1
 
Nonsense mediated decay
K7EK54 -TSL:5CDS 5' incomplete
ENST00000581482.5HEXD-20955346aaENSP00000464497.1
 
Nonsense mediated decay
J3QS29 -TSL:5
ENST00000644886.1HEXD-2172235No protein-
 
Retained intron
---
ENST00000585077.1HEXD-2151139No protein-
 
Retained intron
--TSL:2
ENST00000582131.1HEXD-210942No protein-
 
Retained intron
--TSL:5
ENST00000583978.5HEXD-214742No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 13, Coding exons: 12, Transcript length: 2,167 bps, Translation length: 486 residues

MANE

This MANE Select transcript contains ENSP00000332634 and matches to NM_001330542.2 and NP_001317471.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8WVB3

CCDS

This transcript is a member of the Human CCDS set: CCDS82231

Transcript Support Level (TSL)

TSL:1

Version

ENST00000327949.15

Type

Protein coding

Annotation Method

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

Annotation Attributes

RNA-Seq supported partial [Definitions]

GENCODE basic gene

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