Canonical Allele Identifier: CA1142121071

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235006G= , CM000663.2:g.155235006G=	GRCh38
NC_000001.10:g.155204797G= , CM000663.1:g.155204797G=	GRCh37
NC_000001.9:g.153471421G=	NCBI36
NG_009783.1:g.14692C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1600C= MANE Select	ENSP00000357357.3:p.Arg534=
ENST00000327247.9:c.1600C=	ENSP00000314508.5:p.Arg534=
ENST00000368373.7:c.1600C=	ENSP00000357357.3:p.Arg534=
ENST00000427500.7:c.1453C=	ENSP00000402577.2:p.Arg485=
ENST00000428024.3:c.1339C=	ENSP00000397986.2:p.Arg447=
ENST00000464536.1:n.191-185C=
ENST00000478472.1:n.960C=
NM_000157.3:c.1600C=	NP_000148.2:p.Arg534=
NM_001005741.2:c.1600C=	NP_001005741.1:p.Arg534=
NM_001005742.2:c.1600C=	NP_001005742.1:p.Arg534=
NM_001171811.1:c.1339C=	NP_001165282.1:p.Arg447=
NM_001171812.1:c.1453C=	NP_001165283.1:p.Arg485=
XM_006711270.1:c.1600C=	XP_006711333.1:p.Arg534=
XM_011509407.1:c.1600C=	XP_011507709.1:p.Arg534=
NM_000157.4:c.1600C= MANE Select	NP_000148.2:p.Arg534=
NM_001005741.3:c.1600C=	NP_001005741.1:p.Arg534=
NM_001005742.3:c.1600C=	NP_001005742.1:p.Arg534=
NM_001171811.2:c.1339C=	NP_001165282.1:p.Arg447=
NM_001171812.2:c.1453C=	NP_001165283.1:p.Arg485=