Description
glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]
Gene Synonyms
GBA1, GC, GCB, GLUC
Location
Chromosome 1: 155,204,243-155,214,490 reverse strand.
GRCh37:CM000663.1
View alleles of this gene on alternative sequences
About this gene
This gene has 15 transcripts (splice variants), 1 gene allele and is associated with 16 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000327247.5 | GBA-002 | 2387 | 536aa | ENSP00000314508.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1102 | J3KQG4 P04062 Q9UQU9 | NM_001005742.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000368373.3 | GBA-001 | 2276 | 536aa | ENSP00000357357.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1102 | J3KQG4 P04062 Q9UQU9 | NM_000157.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000427500.3 | GBA-015 | 2063 | 487aa | ENSP00000402577.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53374 | J3KQK9 Q9UQU9 | NM_001171812.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000428024.3 | GBA-016 | 1817 | 449aa | ENSP00000397986.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53373 | J3KQG4 | NM_001171811.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000536770.1 | GBA-201 | 1652 | 423aa | ENSP00000445560.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H241 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000493842.1 | GBA-012 | 1020 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000478472.1 | GBA-005 | 1005 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000491081.1 | GBA-010 | 892 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000473570.1 | GBA-013 | 862 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460156.1 | GBA-009 | 750 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000484489.1 | GBA-006 | 749 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497670.1 | GBA-007 | 696 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467918.1 | GBA-014 | 625 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000464536.1 | GBA-003 | 559 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000470104.1 | GBA-011 | 487 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
