Canonical Allele Identifier: CA1141188039

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236340C= , CM000663.2:g.155236340C=	GRCh38
NC_000001.10:g.155206131C= , CM000663.1:g.155206131C=	GRCh37
NC_000001.9:g.153472755C=	NCBI36
NG_009783.1:g.13358G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1129G= MANE Select	ENSP00000357357.3:p.Ala377=
ENST00000327247.9:c.1129G=	ENSP00000314508.5:p.Ala377=
ENST00000368373.7:c.1129G=	ENSP00000357357.3:p.Ala377=
ENST00000427500.7:c.982G=	ENSP00000402577.2:p.Ala328=
ENST00000428024.3:c.868G=	ENSP00000397986.2:p.Ala290=
ENST00000478472.1:n.120G=
ENST00000484489.5:n.340-52G=
ENST00000491081.5:n.734G=
NM_000157.3:c.1129G=	NP_000148.2:p.Ala377=
NM_001005741.2:c.1129G=	NP_001005741.1:p.Ala377=
NM_001005742.2:c.1129G=	NP_001005742.1:p.Ala377=
NM_001171811.1:c.868G=	NP_001165282.1:p.Ala290=
NM_001171812.1:c.982G=	NP_001165283.1:p.Ala328=
XM_006711270.1:c.1129G=	XP_006711333.1:p.Ala377=
XM_011509407.1:c.1129G=	XP_011507709.1:p.Ala377=
NM_000157.4:c.1129G= MANE Select	NP_000148.2:p.Ala377=
NM_001005741.3:c.1129G=	NP_001005741.1:p.Ala377=
NM_001005742.3:c.1129G=	NP_001005742.1:p.Ala377=
NM_001171811.2:c.868G=	NP_001165282.1:p.Ala290=
NM_001171812.2:c.982G=	NP_001165283.1:p.Ala328=