Canonical Allele Identifier: CA221379

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93444
• ClinVar RCV Id: RCV001248921
• dbSNP Id: rs398123526
• gnomAD v2: 1-155206200-C-G
• gnomAD v4: 1-155236409-C-G
• MyVariant Identifiers: chr1:g.155206200C>G (hg19) ; chr1:g.155236409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236409C>G , CM000663.2:g.155236409C>G	GRCh38
NC_000001.10:g.155206200C>G , CM000663.1:g.155206200C>G	GRCh37
NC_000001.9:g.153472824C>G	NCBI36
NG_009783.1:g.13289G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1060G>C MANE Select	ENSP00000357357.3:p.Asp354His
ENST00000327247.9:c.1060G>C	ENSP00000314508.5:p.Asp354His
ENST00000368373.7:c.1060G>C	ENSP00000357357.3:p.Asp354His
ENST00000427500.7:c.913G>C	ENSP00000402577.2:p.Asp305His
ENST00000428024.3:c.799G>C	ENSP00000397986.2:p.Asp267His
ENST00000478472.1:n.51G>C
ENST00000484489.5:n.340-121G>C
ENST00000491081.5:n.665G>C
ENST00000497670.5:n.683G>C
NM_000157.3:c.1060G>C	NP_000148.2:p.Asp354His
NM_001005741.2:c.1060G>C	NP_001005741.1:p.Asp354His
NM_001005742.2:c.1060G>C	NP_001005742.1:p.Asp354His
NM_001171811.1:c.799G>C	NP_001165282.1:p.Asp267His
NM_001171812.1:c.913G>C	NP_001165283.1:p.Asp305His
XM_006711270.1:c.1060G>C	XP_006711333.1:p.Asp354His
XM_011509407.1:c.1060G>C	XP_011507709.1:p.Asp354His
NM_000157.4:c.1060G>C MANE Select	NP_000148.2:p.Asp354His
NM_001005741.3:c.1060G>C	NP_001005741.1:p.Asp354His
NM_001005742.3:c.1060G>C	NP_001005742.1:p.Asp354His
NM_001171811.2:c.799G>C	NP_001165282.1:p.Asp267His
NM_001171812.2:c.913G>C	NP_001165283.1:p.Asp305His