Description

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

Location
About this transcript

This transcript has 13 exons, is annotated with 19 domains and features, is associated with 294 variations and maps to 21 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

Protein domains for ENSP00000456489.1

Transcript-based displays