Canonical Allele Identifier: CA1145675733

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024925T= , CM000663.2:g.2024925T=	GRCh38
NC_000001.10:g.1956364T= , CM000663.1:g.1956364T=	GRCh37
NC_000001.9:g.1946224T=	NCBI36
NG_008168.1:g.10597T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-17T= MANE Select	ENSP00000367848.4:n.69-17T=
ENST00000638411.1:c.69-17T=	ENSP00000491632.1:n.69-17T=
ENST00000638604.1:n.133-17T=
ENST00000638771.1:c.69-17T=	ENSP00000492435.1:n.69-17T=
ENST00000639045.1:c.*55-17T=	ENSP00000491997.1:n.*55-17T=
ENST00000639777.1:n.656T=
ENST00000639935.1:n.106-17T=
ENST00000640030.1:c.9-17T=	ENSP00000491411.1:n.9-17T=
ENST00000640067.1:c.69-17T=	ENSP00000491844.1:n.69-17T=
ENST00000640423.1:n.78-17T=
ENST00000640949.1:c.69-17T=	ENSP00000492500.1:n.69-17T=
ENST00000378585.5:c.69-17T=	ENSP00000367848.4:n.69-17T=
NM_000815.4:c.69-17T=	NP_000806.2:n.69-17T=
XM_011541194.1:c.108-17T=	XP_011539496.1:n.108-17T=
XM_011541194.3:c.108-17T=	XP_011539496.1:n.108-17T=
XM_017000936.1:c.757T=	XP_016856425.1:p.Trp253=
NM_000815.5:c.69-17T= MANE Select	NP_000806.2:n.69-17T=