Canonical Allele Identifier: CA30894374

Gene: GBA1

Linked Data

• dbSNP Id: rs1041727534
• gnomAD v2: 1-155205010-G-C
• gnomAD v3: 1-155235219-G-C
• gnomAD v4: 1-155235219-G-C
• MyVariant Identifiers: chr1:g.155205010G>C (hg19) ; chr1:g.155235219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235219G>C , CM000663.2:g.155235219G>C	GRCh38
NC_000001.10:g.155205010G>C , CM000663.1:g.155205010G>C	GRCh37
NC_000001.9:g.153471634G>C	NCBI36
NG_009783.1:g.14479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1481C>G MANE Select	ENSP00000357357.3:p.Ser494Cys
ENST00000327247.9:c.1481C>G	ENSP00000314508.5:p.Ser494Cys
ENST00000368373.7:c.1481C>G	ENSP00000357357.3:p.Ser494Cys
ENST00000427500.7:c.1334C>G	ENSP00000402577.2:p.Ser445Cys
ENST00000428024.3:c.1220C>G	ENSP00000397986.2:p.Ser407Cys
ENST00000464536.1:n.191-398C>G
ENST00000478472.1:n.841C>G
ENST00000484489.5:n.640C>G
NM_000157.3:c.1481C>G	NP_000148.2:p.Ser494Cys
NM_001005741.2:c.1481C>G	NP_001005741.1:p.Ser494Cys
NM_001005742.2:c.1481C>G	NP_001005742.1:p.Ser494Cys
NM_001171811.1:c.1220C>G	NP_001165282.1:p.Ser407Cys
NM_001171812.1:c.1334C>G	NP_001165283.1:p.Ser445Cys
XM_006711270.1:c.1481C>G	XP_006711333.1:p.Ser494Cys
XM_011509407.1:c.1481C>G	XP_011507709.1:p.Ser494Cys
NM_000157.4:c.1481C>G MANE Select	NP_000148.2:p.Ser494Cys
NM_001005741.3:c.1481C>G	NP_001005741.1:p.Ser494Cys
NM_001005742.3:c.1481C>G	NP_001005742.1:p.Ser494Cys
NM_001171811.2:c.1220C>G	NP_001165282.1:p.Ser407Cys
NM_001171812.2:c.1334C>G	NP_001165283.1:p.Ser445Cys