Canonical Allele Identifier: CA1141805

Gene: GBA1

Linked Data

• ClinVar Variation Id: 806230
• ClinVar RCV Id: RCV000994119 ; RCV001832312 ; RCV001779099 ; RCV002479164
• dbSNP Id: rs1141812
• ExAC: 1:155209737 G / A
• gnomAD v2: 1-155209737-G-A
• gnomAD v3: 1-155239946-G-A
• gnomAD v4: 1-155239946-G-A
• MyVariant Identifiers: chr1:g.155209737G>A (hg19) ; chr1:g.155239946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239946G>A , CM000663.2:g.155239946G>A	GRCh38
NC_000001.10:g.155209737G>A , CM000663.1:g.155209737G>A	GRCh37
NC_000001.9:g.153476361G>A	NCBI36
NG_009783.1:g.9752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.247C>T MANE Select	ENSP00000357357.3:p.Arg83Cys
ENST00000327247.9:c.247C>T	ENSP00000314508.5:p.Arg83Cys
ENST00000368373.7:c.247C>T	ENSP00000357357.3:p.Arg83Cys
ENST00000427500.7:c.247C>T	ENSP00000402577.2:p.Arg83Cys
ENST00000428024.3:c.-15C>T	ENSP00000397986.2:n.-15C>T
ENST00000467918.5:n.437C>T
ENST00000473570.5:n.568C>T
ENST00000484489.5:n.339+27C>T
ENST00000493842.5:n.585C>T
ENST00000497670.5:n.17C>T
NM_000157.3:c.247C>T	NP_000148.2:p.Arg83Cys
NM_001005741.2:c.247C>T	NP_001005741.1:p.Arg83Cys
NM_001005742.2:c.247C>T	NP_001005742.1:p.Arg83Cys
NM_001171811.1:c.-15C>T	NP_001165282.1:n.-15C>T
NM_001171812.1:c.247C>T	NP_001165283.1:p.Arg83Cys
XM_006711270.1:c.247C>T	XP_006711333.1:p.Arg83Cys
XM_011509407.1:c.247C>T	XP_011507709.1:p.Arg83Cys
NM_000157.4:c.247C>T MANE Select	NP_000148.2:p.Arg83Cys
NM_001005741.3:c.247C>T	NP_001005741.1:p.Arg83Cys
NM_001005742.3:c.247C>T	NP_001005742.1:p.Arg83Cys
NM_001171811.2:c.-15C>T	NP_001165282.1:n.-15C>T
NM_001171812.2:c.247C>T	NP_001165283.1:p.Arg83Cys