Canonical Allele Identifier: CA1141658

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237412T>C , CM000663.2:g.155237412T>C	GRCh38
NC_000001.10:g.155207203T>C , CM000663.1:g.155207203T>C	GRCh37
NC_000001.9:g.153473827T>C	NCBI36
NG_009783.1:g.12286A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.928A>G MANE Select	NP_000148.2:p.Ser310Gly
ENST00000368373.8:c.928A>G MANE Select	ENSP00000357357.3:p.Ser310Gly
NM_000157.3:c.928A>G	NP_000148.2:p.Ser310Gly
NM_001005741.2:c.928A>G	NP_001005741.1:p.Ser310Gly
NM_001005741.3:c.928A>G	NP_001005741.1:p.Ser310Gly
NM_001005742.2:c.928A>G	NP_001005742.1:p.Ser310Gly
NM_001005742.3:c.928A>G	NP_001005742.1:p.Ser310Gly
NM_001171811.1:c.667A>G	NP_001165282.1:p.Ser223Gly
NM_001171811.2:c.667A>G	NP_001165282.1:p.Ser223Gly
NM_001171812.1:c.781A>G	NP_001165283.1:p.Ser261Gly
NM_001171812.2:c.781A>G	NP_001165283.1:p.Ser261Gly
ENST00000327247.9:c.928A>G	ENSP00000314508.5:p.Ser310Gly
ENST00000368373.7:c.928A>G	ENSP00000357357.3:p.Ser310Gly
ENST00000427500.7:c.781A>G	ENSP00000402577.2:p.Ser261Gly
ENST00000428024.3:c.667A>G	ENSP00000397986.2:p.Ser223Gly
ENST00000484489.5:n.340-1124A>G
ENST00000491081.5:n.533A>G
ENST00000497670.5:n.551A>G
XM_006711270.1:c.928A>G	XP_006711333.1:p.Ser310Gly
XM_011509407.1:c.928A>G	XP_011507709.1:p.Ser310Gly