Canonical Allele Identifier: CA30896523

Gene: GBA1

Linked Data

• dbSNP Id: rs75954905
• MyVariant Identifiers: chr1:g.155209756G>C (hg19) ; chr1:g.155239965G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239965G>C , CM000663.2:g.155239965G>C	GRCh38
NC_000001.10:g.155209756G>C , CM000663.1:g.155209756G>C	GRCh37
NC_000001.9:g.153476380G>C	NCBI36
NG_009783.1:g.9733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.228C>G MANE Select	ENSP00000357357.3:p.Phe76Leu
ENST00000327247.9:c.228C>G	ENSP00000314508.5:p.Phe76Leu
ENST00000368373.7:c.228C>G	ENSP00000357357.3:p.Phe76Leu
ENST00000427500.7:c.228C>G	ENSP00000402577.2:p.Phe76Leu
ENST00000428024.3:c.-34C>G	ENSP00000397986.2:n.-34C>G
ENST00000467918.5:n.421-3C>G
ENST00000470104.1:n.482C>G
ENST00000473570.5:n.549C>G
ENST00000484489.5:n.339+8C>G
ENST00000493842.5:n.566C>G
NM_000157.3:c.228C>G	NP_000148.2:p.Phe76Leu
NM_001005741.2:c.228C>G	NP_001005741.1:p.Phe76Leu
NM_001005742.2:c.228C>G	NP_001005742.1:p.Phe76Leu
NM_001171811.1:c.-34C>G	NP_001165282.1:n.-34C>G
NM_001171812.1:c.228C>G	NP_001165283.1:p.Phe76Leu
XM_006711270.1:c.228C>G	XP_006711333.1:p.Phe76Leu
XM_011509407.1:c.228C>G	XP_011507709.1:p.Phe76Leu
NM_000157.4:c.228C>G MANE Select	NP_000148.2:p.Phe76Leu
NM_001005741.3:c.228C>G	NP_001005741.1:p.Phe76Leu
NM_001005742.3:c.228C>G	NP_001005742.1:p.Phe76Leu
NM_001171811.2:c.-34C>G	NP_001165282.1:n.-34C>G
NM_001171812.2:c.228C>G	NP_001165283.1:p.Phe76Leu