Canonical Allele Identifier: CA1149430181

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025031G= , CM000663.2:g.2025031G=	GRCh38
NC_000001.10:g.1956470G= , CM000663.1:g.1956470G=	GRCh37
NC_000001.9:g.1946330G=	NCBI36
NG_008168.1:g.10703G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.158G= MANE Select	ENSP00000367848.4:p.Arg53=
ENST00000638411.1:c.158G=	ENSP00000491632.1:p.Arg53=
ENST00000638604.1:n.222G=
ENST00000638771.1:c.158G=	ENSP00000492435.1:p.Arg53=
ENST00000639045.1:c.*144G=	ENSP00000491997.1:n.*144G=
ENST00000639777.1:n.762G=
ENST00000639935.1:n.195G=
ENST00000640030.1:c.98G=	ENSP00000491411.1:p.Arg33=
ENST00000640067.1:c.158G=	ENSP00000491844.1:p.Arg53=
ENST00000640423.1:n.167G=
ENST00000640949.1:c.158G=	ENSP00000492500.1:p.Arg53=
ENST00000378585.5:c.158G=	ENSP00000367848.4:p.Arg53=
NM_000815.4:c.158G=	NP_000806.2:p.Arg53=
XM_011541194.1:c.197G=	XP_011539496.1:p.Arg66=
XM_011541194.3:c.197G=	XP_011539496.1:p.Arg66=
XM_017000936.1:c.863G=	XP_016856425.1:p.Arg288=
NM_000815.5:c.158G= MANE Select	NP_000806.2:p.Arg53=