Canonical Allele Identifier: CA1149430185

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025039C= , CM000663.2:g.2025039C=	GRCh38
NC_000001.10:g.1956478C= , CM000663.1:g.1956478C=	GRCh37
NC_000001.9:g.1946338C=	NCBI36
NG_008168.1:g.10711C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.166C= MANE Select	ENSP00000367848.4:p.Arg56=
ENST00000638411.1:c.166C=	ENSP00000491632.1:p.Arg56=
ENST00000638604.1:n.230C=
ENST00000638771.1:c.166C=	ENSP00000492435.1:p.Arg56=
ENST00000639045.1:c.*152C=	ENSP00000491997.1:n.*152C=
ENST00000639777.1:n.770C=
ENST00000639935.1:n.203C=
ENST00000640030.1:c.106C=	ENSP00000491411.1:p.Arg36=
ENST00000640067.1:c.166C=	ENSP00000491844.1:p.Arg56=
ENST00000640423.1:n.175C=
ENST00000640949.1:c.166C=	ENSP00000492500.1:p.Arg56=
ENST00000378585.5:c.166C=	ENSP00000367848.4:p.Arg56=
NM_000815.4:c.166C=	NP_000806.2:p.Arg56=
XM_011541194.1:c.205C=	XP_011539496.1:p.Arg69=
XM_011541194.3:c.205C=	XP_011539496.1:p.Arg69=
XM_017000936.1:c.871C=	XP_016856425.1:p.Arg291=
NM_000815.5:c.166C= MANE Select	NP_000806.2:p.Arg56=