Canonical Allele Identifier: CA1149430200

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025040G= , CM000663.2:g.2025040G=	GRCh38
NC_000001.10:g.1956479G= , CM000663.1:g.1956479G=	GRCh37
NC_000001.9:g.1946339G=	NCBI36
NG_008168.1:g.10712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.167G= MANE Select	ENSP00000367848.4:p.Arg56=
ENST00000638411.1:c.167G=	ENSP00000491632.1:p.Arg56=
ENST00000638604.1:n.231G=
ENST00000638771.1:c.167G=	ENSP00000492435.1:p.Arg56=
ENST00000639045.1:c.*153G=	ENSP00000491997.1:n.*153G=
ENST00000639777.1:n.771G=
ENST00000639935.1:n.204G=
ENST00000640030.1:c.107G=	ENSP00000491411.1:p.Arg36=
ENST00000640067.1:c.167G=	ENSP00000491844.1:p.Arg56=
ENST00000640423.1:n.176G=
ENST00000640949.1:c.167G=	ENSP00000492500.1:p.Arg56=
ENST00000378585.5:c.167G=	ENSP00000367848.4:p.Arg56=
NM_000815.4:c.167G=	NP_000806.2:p.Arg56=
XM_011541194.1:c.206G=	XP_011539496.1:p.Arg69=
XM_011541194.3:c.206G=	XP_011539496.1:p.Arg69=
XM_017000936.1:c.872G=	XP_016856425.1:p.Arg291=
NM_000815.5:c.167G= MANE Select	NP_000806.2:p.Arg56=