Canonical Allele Identifier: CA2481202739

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238157C= , CM000663.2:g.155238157C=	GRCh38
NC_000001.10:g.155207948C= , CM000663.1:g.155207948C=	GRCh37
NC_000001.9:g.153474572C=	NCBI36
NG_009783.1:g.11541G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.738G= MANE Select	ENSP00000357357.3:p.Gln246=
ENST00000327247.9:c.738G=	ENSP00000314508.5:p.Gln246=
ENST00000368373.7:c.738G=	ENSP00000357357.3:p.Gln246=
ENST00000427500.7:c.591G=	ENSP00000402577.2:p.Gln197=
ENST00000428024.3:c.477G=	ENSP00000397986.2:p.Gln159=
ENST00000460156.1:n.525G=
ENST00000484489.5:n.339+1816G=
ENST00000491081.5:n.343G=
ENST00000497670.5:n.361G=
NM_000157.3:c.738G=	NP_000148.2:p.Gln246=
NM_001005741.2:c.738G=	NP_001005741.1:p.Gln246=
NM_001005742.2:c.738G=	NP_001005742.1:p.Gln246=
NM_001171811.1:c.477G=	NP_001165282.1:p.Gln159=
NM_001171812.1:c.591G=	NP_001165283.1:p.Gln197=
XM_006711270.1:c.738G=	XP_006711333.1:p.Gln246=
XM_011509407.1:c.738G=	XP_011507709.1:p.Gln246=
NM_000157.4:c.738G= MANE Select	NP_000148.2:p.Gln246=
NM_001005741.3:c.738G=	NP_001005741.1:p.Gln246=
NM_001005742.3:c.738G=	NP_001005742.1:p.Gln246=
NM_001171811.2:c.477G=	NP_001165282.1:p.Gln159=
NM_001171812.2:c.591G=	NP_001165283.1:p.Gln197=