Canonical Allele Identifier: CA1139911830

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239569C= , CM000663.2:g.155239569C=	GRCh38
NC_000001.10:g.155209360C= , CM000663.1:g.155209360C=	GRCh37
NC_000001.9:g.153475984C=	NCBI36
NG_009783.1:g.10129G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+47G= MANE Select	ENSP00000357357.3:n.454+47G=
ENST00000327247.9:c.454+47G=	ENSP00000314508.5:n.454+47G=
ENST00000368373.7:c.454+47G=	ENSP00000357357.3:n.454+47G=
ENST00000427500.7:c.307+317G=	ENSP00000402577.2:n.307+317G=
ENST00000428024.3:c.193+47G=	ENSP00000397986.2:n.193+47G=
ENST00000473570.5:n.775+47G=
ENST00000484489.5:n.339+404G=
ENST00000493842.5:n.792+47G=
ENST00000497670.5:n.77+317G=
NM_000157.3:c.454+47G=	NP_000148.2:n.454+47G=
NM_001005741.2:c.454+47G=	NP_001005741.1:n.454+47G=
NM_001005742.2:c.454+47G=	NP_001005742.1:n.454+47G=
NM_001171811.1:c.193+47G=	NP_001165282.1:n.193+47G=
NM_001171812.1:c.307+317G=	NP_001165283.1:n.307+317G=
XM_006711270.1:c.454+47G=	XP_006711333.1:n.454+47G=
XM_011509407.1:c.454+47G=	XP_011507709.1:n.454+47G=
NM_000157.4:c.454+47G= MANE Select	NP_000148.2:n.454+47G=
NM_001005741.3:c.454+47G=	NP_001005741.1:n.454+47G=
NM_001005742.3:c.454+47G=	NP_001005742.1:n.454+47G=
NM_001171811.2:c.193+47G=	NP_001165282.1:n.193+47G=
NM_001171812.2:c.307+317G=	NP_001165283.1:n.307+317G=