Canonical Allele Identifier: CA1140954448

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235256C= , CM000663.2:g.155235256C=	GRCh38
NC_000001.10:g.155205047C= , CM000663.1:g.155205047C=	GRCh37
NC_000001.9:g.153471671C=	NCBI36
NG_009783.1:g.14442G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1444G= MANE Select	ENSP00000357357.3:p.Asp482=
ENST00000327247.9:c.1444G=	ENSP00000314508.5:p.Asp482=
ENST00000368373.7:c.1444G=	ENSP00000357357.3:p.Asp482=
ENST00000427500.7:c.1297G=	ENSP00000402577.2:p.Asp433=
ENST00000428024.3:c.1183G=	ENSP00000397986.2:p.Asp395=
ENST00000464536.1:n.190+390G=
ENST00000478472.1:n.804G=
ENST00000484489.5:n.603G=
NM_000157.3:c.1444G=	NP_000148.2:p.Asp482=
NM_001005741.2:c.1444G=	NP_001005741.1:p.Asp482=
NM_001005742.2:c.1444G=	NP_001005742.1:p.Asp482=
NM_001171811.1:c.1183G=	NP_001165282.1:p.Asp395=
NM_001171812.1:c.1297G=	NP_001165283.1:p.Asp433=
XM_006711270.1:c.1444G=	XP_006711333.1:p.Asp482=
XM_011509407.1:c.1444G=	XP_011507709.1:p.Asp482=
NM_000157.4:c.1444G= MANE Select	NP_000148.2:p.Asp482=
NM_001005741.3:c.1444G=	NP_001005741.1:p.Asp482=
NM_001005742.3:c.1444G=	NP_001005742.1:p.Asp482=
NM_001171811.2:c.1183G=	NP_001165282.1:p.Asp395=
NM_001171812.2:c.1297G=	NP_001165283.1:p.Asp433=