Canonical Allele Identifier: CA146980

Gene: GBA1

Linked Data

• ClinVar Variation Id: 93450
• ClinVar RCV Id: RCV000079341 ; RCV003129772
• dbSNP Id: rs368060
• ExAC: 1:155205008 C / G
• gnomAD v2: 1-155205008-C-G
• gnomAD v3: 1-155235217-C-G
• gnomAD v4: 1-155235217-C-G
• MyVariant Identifiers: chr1:g.155205008C>G (hg19) ; chr1:g.155235217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235217C>G , CM000663.2:g.155235217C>G	GRCh38
NC_000001.10:g.155205008C>G , CM000663.1:g.155205008C>G	GRCh37
NC_000001.9:g.153471632C>G	NCBI36
NG_009783.1:g.14481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1483G>C MANE Select	ENSP00000357357.3:p.Ala495Pro
ENST00000327247.9:c.1483G>C	ENSP00000314508.5:p.Ala495Pro
ENST00000368373.7:c.1483G>C	ENSP00000357357.3:p.Ala495Pro
ENST00000427500.7:c.1336G>C	ENSP00000402577.2:p.Ala446Pro
ENST00000428024.3:c.1222G>C	ENSP00000397986.2:p.Ala408Pro
ENST00000464536.1:n.191-396G>C
ENST00000478472.1:n.843G>C
ENST00000484489.5:n.642G>C
NM_000157.3:c.1483G>C	NP_000148.2:p.Ala495Pro
NM_001005741.2:c.1483G>C	NP_001005741.1:p.Ala495Pro
NM_001005742.2:c.1483G>C	NP_001005742.1:p.Ala495Pro
NM_001171811.1:c.1222G>C	NP_001165282.1:p.Ala408Pro
NM_001171812.1:c.1336G>C	NP_001165283.1:p.Ala446Pro
XM_006711270.1:c.1483G>C	XP_006711333.1:p.Ala495Pro
XM_011509407.1:c.1483G>C	XP_011507709.1:p.Ala495Pro
NM_000157.4:c.1483G>C MANE Select	NP_000148.2:p.Ala495Pro
NM_001005741.3:c.1483G>C	NP_001005741.1:p.Ala495Pro
NM_001005742.3:c.1483G>C	NP_001005742.1:p.Ala495Pro
NM_001171811.2:c.1222G>C	NP_001165282.1:p.Ala408Pro
NM_001171812.2:c.1336G>C	NP_001165283.1:p.Ala446Pro