Human (GRCh37.p13)
Description

glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]

Gene Synonyms

GBA1, GC, GCB, GLUC

About this transcript

This transcript has 12 exons, is annotated with 16 domains and features, is associated with 5240 variant alleles and maps to 914 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000327247.5GBA-0022387536aaENSP00000314508.5
 
Protein coding
CCDS1102J3KQG4 P04062 Q9UQU9
NM_001005742.2GENCODE basic
ENST00000368373.3GBA-0012276536aaENSP00000357357.3
 
Protein coding
CCDS1102J3KQG4 P04062 Q9UQU9
NM_000157.3GENCODE basic
ENST00000427500.3GBA-0152063487aaENSP00000402577.2
 
Protein coding
CCDS53374J3KQK9 Q9UQU9 NM_001171812.1GENCODE basic
ENST00000428024.3GBA-0161817449aaENSP00000397986.2
 
Protein coding
CCDS53373J3KQG4 NM_001171811.1GENCODE basic
ENST00000536770.1GBA-2011652423aaENSP00000445560.1
 
Protein coding
F5H241 -GENCODE basic
ENST00000493842.1GBA-0121020No protein-
 
Processed transcript
---
ENST00000478472.1GBA-0051005No protein-
 
Processed transcript
---
ENST00000491081.1GBA-010892No protein-
 
Processed transcript
---
ENST00000473570.1GBA-013862No protein-
 
Processed transcript
---
ENST00000460156.1GBA-009750No protein-
 
Processed transcript
---
ENST00000484489.1GBA-006749No protein-
 
Processed transcript
---
ENST00000497670.1GBA-007696No protein-
 
Processed transcript
---
ENST00000467918.1GBA-014625No protein-
 
Processed transcript
---
ENST00000464536.1GBA-003559No protein-
 
Processed transcript
---
ENST00000470104.1GBA-011487No protein-
 
Processed transcript
---
Statistics

Exons: 12, Coding exons: 11, Transcript length: 2,387 bps, Translation length: 536 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P04062

CCDS

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

Version

ENST00000327247.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Stop codons

This transcript has a variant, rs1141807, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HapMap-CEU, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HapMap-HCB.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000087204 (version 1)
GENCODE basic gene

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