Canonical Allele Identifier: CA221383

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93445
• ClinVar RCV Id: RCV001253701 ; RCV002460910
• dbSNP Id: rs104886460
• ExAC: 1:155210420 C / T
• gnomAD v2: 1-155210420-C-T
• gnomAD v3: 1-155240629-C-T
• gnomAD v4: 1-155240629-C-T
• MyVariant Identifiers: chr1:g.155210420C>T (hg19) ; chr1:g.155240629C>T (hg38)
• PubMed: PMID:1415223 ; PMID:1558964 ; PMID:1589760 ; PMID:2349952 ; PMID:2508065 ; PMID:10649495 ; PMID:20301446 ; PMID:23430873

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155240629C>T , CM000663.2:g.155240629C>T	GRCh38
NC_000001.10:g.155210420C>T , CM000663.1:g.155210420C>T	GRCh37
NC_000001.9:g.153477044C>T	NCBI36
NG_009783.1:g.9069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.115+1G>A MANE Select	ENSP00000357357.3:n.115+1G>A
ENST00000327247.9:c.115+1G>A	ENSP00000314508.5:n.115+1G>A
ENST00000368373.7:c.115+1G>A	ENSP00000357357.3:n.115+1G>A
ENST00000427500.7:c.115+1G>A	ENSP00000402577.2:n.115+1G>A
ENST00000428024.3:c.-146-552G>A	ENSP00000397986.2:n.-146-552G>A
ENST00000467918.5:n.420+1G>A
ENST00000470104.1:n.246+1G>A
ENST00000473570.5:n.436+1G>A
ENST00000484489.5:n.234+1G>A
ENST00000493842.5:n.453+1G>A
NM_000157.3:c.115+1G>A	NP_000148.2:n.115+1G>A
NM_001005741.2:c.115+1G>A	NP_001005741.1:n.115+1G>A
NM_001005742.2:c.115+1G>A	NP_001005742.1:n.115+1G>A
NM_001171811.1:c.-146-552G>A	NP_001165282.1:n.-146-552G>A
NM_001171812.1:c.115+1G>A	NP_001165283.1:n.115+1G>A
XM_006711270.1:c.115+1G>A	XP_006711333.1:n.115+1G>A
XM_011509407.1:c.115+1G>A	XP_011507709.1:n.115+1G>A
NM_000157.4:c.115+1G>A MANE Select	NP_000148.2:n.115+1G>A
NM_001005741.3:c.115+1G>A	NP_001005741.1:n.115+1G>A
NM_001005742.3:c.115+1G>A	NP_001005742.1:n.115+1G>A
NM_001171811.2:c.-146-552G>A	NP_001165282.1:n.-146-552G>A
NM_001171812.2:c.115+1G>A	NP_001165283.1:n.115+1G>A