Canonical Allele Identifier: CA1141804

Gene: GBA1

Linked Data

• dbSNP Id: rs765182795
• ExAC: 1:155209736 C / T
• gnomAD v2: 1-155209736-C-T
• gnomAD v4: 1-155239945-C-T
• MyVariant Identifiers: chr1:g.155209736C>T (hg19) ; chr1:g.155239945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239945C>T , CM000663.2:g.155239945C>T	GRCh38
NC_000001.10:g.155209736C>T , CM000663.1:g.155209736C>T	GRCh37
NC_000001.9:g.153476360C>T	NCBI36
NG_009783.1:g.9753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.248G>A MANE Select	ENSP00000357357.3:p.Arg83His
ENST00000327247.9:c.248G>A	ENSP00000314508.5:p.Arg83His
ENST00000368373.7:c.248G>A	ENSP00000357357.3:p.Arg83His
ENST00000427500.7:c.248G>A	ENSP00000402577.2:p.Arg83His
ENST00000428024.3:c.-14G>A	ENSP00000397986.2:n.-14G>A
ENST00000467918.5:n.438G>A
ENST00000473570.5:n.569G>A
ENST00000484489.5:n.339+28G>A
ENST00000493842.5:n.586G>A
ENST00000497670.5:n.18G>A
NM_000157.3:c.248G>A	NP_000148.2:p.Arg83His
NM_001005741.2:c.248G>A	NP_001005741.1:p.Arg83His
NM_001005742.2:c.248G>A	NP_001005742.1:p.Arg83His
NM_001171811.1:c.-14G>A	NP_001165282.1:n.-14G>A
NM_001171812.1:c.248G>A	NP_001165283.1:p.Arg83His
XM_006711270.1:c.248G>A	XP_006711333.1:p.Arg83His
XM_011509407.1:c.248G>A	XP_011507709.1:p.Arg83His
NM_000157.4:c.248G>A MANE Select	NP_000148.2:p.Arg83His
NM_001005741.3:c.248G>A	NP_001005741.1:p.Arg83His
NM_001005742.3:c.248G>A	NP_001005742.1:p.Arg83His
NM_001171811.2:c.-14G>A	NP_001165282.1:n.-14G>A
NM_001171812.2:c.248G>A	NP_001165283.1:p.Arg83His