Canonical Allele Identifier: CA221407

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93457
• ClinVar RCV Id: RCV000079351 ; RCV000243066 ; RCV000588402 ; RCV004019535
• dbSNP Id: rs61748906
• ExAC: 1:155208019 A / G
• gnomAD v2: 1-155208019-A-G
• gnomAD v3: 1-155238228-A-G
• gnomAD v4: 1-155238228-A-G
• MyVariant Identifiers: chr1:g.155208019A>G (hg19) ; chr1:g.155238228A>G (hg38)
• PubMed: PMID:10679038 ; PMID:10757640 ; PMID:17059888 ; PMID:26220978

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238228A>G , CM000663.2:g.155238228A>G	GRCh38
NC_000001.10:g.155208019A>G , CM000663.1:g.155208019A>G	GRCh37
NC_000001.9:g.153474643A>G	NCBI36
NG_009783.1:g.11470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.667T>C MANE Select	ENSP00000357357.3:p.Trp223Arg
ENST00000327247.9:c.667T>C	ENSP00000314508.5:p.Trp223Arg
ENST00000368373.7:c.667T>C	ENSP00000357357.3:p.Trp223Arg
ENST00000427500.7:c.520T>C	ENSP00000402577.2:p.Trp174Arg
ENST00000428024.3:c.406T>C	ENSP00000397986.2:p.Trp136Arg
ENST00000460156.1:n.454T>C
ENST00000484489.5:n.339+1745T>C
ENST00000491081.5:n.272T>C
ENST00000493842.5:n.1005T>C
ENST00000497670.5:n.290T>C
NM_000157.3:c.667T>C	NP_000148.2:p.Trp223Arg
NM_001005741.2:c.667T>C	NP_001005741.1:p.Trp223Arg
NM_001005742.2:c.667T>C	NP_001005742.1:p.Trp223Arg
NM_001171811.1:c.406T>C	NP_001165282.1:p.Trp136Arg
NM_001171812.1:c.520T>C	NP_001165283.1:p.Trp174Arg
XM_006711270.1:c.667T>C	XP_006711333.1:p.Trp223Arg
XM_011509407.1:c.667T>C	XP_011507709.1:p.Trp223Arg
NM_000157.4:c.667T>C MANE Select	NP_000148.2:p.Trp223Arg
NM_001005741.3:c.667T>C	NP_001005741.1:p.Trp223Arg
NM_001005742.3:c.667T>C	NP_001005742.1:p.Trp223Arg
NM_001171811.2:c.406T>C	NP_001165282.1:p.Trp136Arg
NM_001171812.2:c.520T>C	NP_001165283.1:p.Trp174Arg