Canonical Allele Identifier: CA1144233120

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238270G= , CM000663.2:g.155238270G=	GRCh38
NC_000001.10:g.155208061G= , CM000663.1:g.155208061G=	GRCh37
NC_000001.9:g.153474685G=	NCBI36
NG_009783.1:g.11428C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.625C= MANE Select	ENSP00000357357.3:p.Arg209=
ENST00000327247.9:c.625C=	ENSP00000314508.5:p.Arg209=
ENST00000368373.7:c.625C=	ENSP00000357357.3:p.Arg209=
ENST00000427500.7:c.478C=	ENSP00000402577.2:p.Arg160=
ENST00000428024.3:c.364C=	ENSP00000397986.2:p.Arg122=
ENST00000460156.1:n.412C=
ENST00000484489.5:n.339+1703C=
ENST00000491081.5:n.230C=
ENST00000493842.5:n.963C=
ENST00000497670.5:n.248C=
NM_000157.3:c.625C=	NP_000148.2:p.Arg209=
NM_001005741.2:c.625C=	NP_001005741.1:p.Arg209=
NM_001005742.2:c.625C=	NP_001005742.1:p.Arg209=
NM_001171811.1:c.364C=	NP_001165282.1:p.Arg122=
NM_001171812.1:c.478C=	NP_001165283.1:p.Arg160=
XM_006711270.1:c.625C=	XP_006711333.1:p.Arg209=
XM_011509407.1:c.625C=	XP_011507709.1:p.Arg209=
NM_000157.4:c.625C= MANE Select	NP_000148.2:p.Arg209=
NM_001005741.3:c.625C=	NP_001005741.1:p.Arg209=
NM_001005742.3:c.625C=	NP_001005742.1:p.Arg209=
NM_001171811.2:c.364C=	NP_001165282.1:p.Arg122=
NM_001171812.2:c.478C=	NP_001165283.1:p.Arg160=