Canonical Allele Identifier: CA1149430169

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025027G= , CM000663.2:g.2025027G=	GRCh38
NC_000001.10:g.1956466G= , CM000663.1:g.1956466G=	GRCh37
NC_000001.9:g.1946326G=	NCBI36
NG_008168.1:g.10699G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.154G= MANE Select	ENSP00000367848.4:p.Ala52=
ENST00000638411.1:c.154G=	ENSP00000491632.1:p.Ala52=
ENST00000638604.1:n.218G=
ENST00000638771.1:c.154G=	ENSP00000492435.1:p.Ala52=
ENST00000639045.1:c.*140G=	ENSP00000491997.1:n.*140G=
ENST00000639777.1:n.758G=
ENST00000639935.1:n.191G=
ENST00000640030.1:c.94G=	ENSP00000491411.1:p.Ala32=
ENST00000640067.1:c.154G=	ENSP00000491844.1:p.Ala52=
ENST00000640423.1:n.163G=
ENST00000640949.1:c.154G=	ENSP00000492500.1:p.Ala52=
ENST00000378585.5:c.154G=	ENSP00000367848.4:p.Ala52=
NM_000815.4:c.154G=	NP_000806.2:p.Ala52=
XM_011541194.1:c.193G=	XP_011539496.1:p.Ala65=
XM_011541194.3:c.193G=	XP_011539496.1:p.Ala65=
XM_017000936.1:c.859G=	XP_016856425.1:p.Ala287=
NM_000815.5:c.154G= MANE Select	NP_000806.2:p.Ala52=