Canonical Allele Identifier: CA1148435653

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025030C= , CM000663.2:g.2025030C=	GRCh38
NC_000001.10:g.1956469C= , CM000663.1:g.1956469C=	GRCh37
NC_000001.9:g.1946329C=	NCBI36
NG_008168.1:g.10702C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.157C= MANE Select	ENSP00000367848.4:p.Arg53=
ENST00000638411.1:c.157C=	ENSP00000491632.1:p.Arg53=
ENST00000638604.1:n.221C=
ENST00000638771.1:c.157C=	ENSP00000492435.1:p.Arg53=
ENST00000639045.1:c.*143C=	ENSP00000491997.1:n.*143C=
ENST00000639777.1:n.761C=
ENST00000639935.1:n.194C=
ENST00000640030.1:c.97C=	ENSP00000491411.1:p.Arg33=
ENST00000640067.1:c.157C=	ENSP00000491844.1:p.Arg53=
ENST00000640423.1:n.166C=
ENST00000640949.1:c.157C=	ENSP00000492500.1:p.Arg53=
ENST00000378585.5:c.157C=	ENSP00000367848.4:p.Arg53=
NM_000815.4:c.157C=	NP_000806.2:p.Arg53=
XM_011541194.1:c.196C=	XP_011539496.1:p.Arg66=
XM_011541194.3:c.196C=	XP_011539496.1:p.Arg66=
XM_017000936.1:c.862C=	XP_016856425.1:p.Arg288=
NM_000815.5:c.157C= MANE Select	NP_000806.2:p.Arg53=