Description

hexosaminidase A (alpha polypeptide) [Source:HGNC Symbol;Acc:HGNC:4878]

Location
About this transcript

This transcript has 11 exons, is associated with 208 variations and maps to 20 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
HEXA-001ENST000002680975252529aaENSP00000268097
 
Protein coding
CCDS10243P06865 NM_000520
NP_000511
TSL:1GENCODE basicAPPRIS P2
HEXA-012ENST000005663041795540aaENSP00000455114
 
Protein coding
-H3BP20 -TSL:2GENCODE basic
HEXA-016ENST000005671591582509aaENSP00000456489
 
Protein coding
-H3BS10 -TSL:1GENCODE basicAPPRIS ALT1
HEXA-007ENST000005672131000119aaENSP00000478217
 
Protein coding
-A0A087WTY2 -TSL:3GENCODE basic
HEXA-003ENST000005674111743143aaENSP00000455545
 
Nonsense mediated decay
-H3BQ04 -TSL:5
HEXA-004ENST000005666721397143aaENSP00000457037
 
Nonsense mediated decay
-H3BT62 -TSL:2
HEXA-005ENST000005670271353318aaENSP00000457521
 
Nonsense mediated decay
-H3BU85 -CDS 5' incompleteTSL:2
HEXA-011ENST000005694101351373aaENSP00000457125
 
Nonsense mediated decay
-H3BTD4 -TSL:5
HEXA-002ENST00000563762117488aaENSP00000456346
 
Nonsense mediated decay
-H3BRP6 -TSL:2
HEXA-014ENST00000568260674128aaENSP00000458128
 
Nonsense mediated decay
-H3BVH8 -CDS 5' incompleteTSL:3
HEXA-006ENST00000569509590No protein-
 
Processed transcript
---TSL:4
HEXA-015ENST000005687776909No protein-
 
Retained intron
---TSL:5
HEXA-009ENST00000565873721No protein-
 
Retained intron
---TSL:2
HEXA-008ENST00000564677572No protein-
 
Retained intron
---TSL:2
HEXA-013ENST00000563908524No protein-
 
Retained intron
---TSL:2
HEXA-010ENST00000569116449No protein-
 
Retained intron
---TSL:2
Statistics

Exons: 11 Coding exons: 10 Transcript length: 1,351 bps Translation length: 373 residues

Transcript Support Level (TSL)

TSL:5

Ensembl version

ENST00000569410.5

Type

Known nonsense mediated decay

Annotation Method

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

Stop codons

This transcript has a variant, rs1800430, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-LWK, ESP6500:African_American.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays