Human (GRCh38.p14)
Description

glucosylceramidase beta 1 [Source:HGNC Symbol;Acc:HGNC:4177]

Gene Synonyms

GBA, GLUC

About this transcript

This transcript has 11 exons, is annotated with 118 domains and features, is associated with 3821 variant alleles and maps to 969 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000368373.8GBA1-2022291536aaENSP00000357357.3
 
Protein coding
CCDS1102P04062-1 NM_000157.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000327247.9GBA1-2012387536aaENSP00000314508.5
 
Protein coding
CCDS1102P04062-1 -GENCODE basicAPPRIS P1TSL:1
ENST00000427500.7GBA1-2032063487aaENSP00000402577.2
 
Protein coding
CCDS53374P04062-5 -GENCODE basicTSL:2
ENST00000428024.3GBA1-2041817449aaENSP00000397986.2
 
Protein coding
CCDS53373P04062-4 -GENCODE basicTSL:2
ENST00000493842.5GBA1-2131020No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000478472.1GBA1-2101005No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000491081.5GBA1-212892No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000473570.5GBA1-209862No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000460156.1GBA1-205750No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000484489.5GBA1-211749No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000497670.5GBA1-214696No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000467918.5GBA1-207625No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000464536.1GBA1-206559No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000470104.1GBA1-208487No protein-
 
Protein coding CDS not defined
--TSL:3
Statistics

Exons: 11, Coding exons: 11, Transcript length: 2,291 bps, Translation length: 536 residues

MANE

This MANE Select transcript contains ENSP00000357357 and matches to NM_000157.4 and NP_000148.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: P04062

CCDS

This transcript is a member of the Human CCDS set: CCDS1102

Transcript Support Level (TSL)

TSL:1

Version

ENST00000368373.8

Type

Protein coding

Annotation Method

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

GENCODE basic gene

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