Canonical Allele Identifier: CA1149430098

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025004T= , CM000663.2:g.2025004T=	GRCh38
NC_000001.10:g.1956443T= , CM000663.1:g.1956443T=	GRCh37
NC_000001.9:g.1946303T=	NCBI36
NG_008168.1:g.10676T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.131T= MANE Select	ENSP00000367848.4:p.Leu44=
ENST00000638411.1:c.131T=	ENSP00000491632.1:p.Leu44=
ENST00000638604.1:n.195T=
ENST00000638771.1:c.131T=	ENSP00000492435.1:p.Leu44=
ENST00000639045.1:c.*117T=	ENSP00000491997.1:n.*117T=
ENST00000639777.1:n.735T=
ENST00000639935.1:n.168T=
ENST00000640030.1:c.71T=	ENSP00000491411.1:p.Leu24=
ENST00000640067.1:c.131T=	ENSP00000491844.1:p.Leu44=
ENST00000640423.1:n.140T=
ENST00000640949.1:c.131T=	ENSP00000492500.1:p.Leu44=
ENST00000378585.5:c.131T=	ENSP00000367848.4:p.Leu44=
NM_000815.4:c.131T=	NP_000806.2:p.Leu44=
XM_011541194.1:c.170T=	XP_011539496.1:p.Leu57=
XM_011541194.3:c.170T=	XP_011539496.1:p.Leu57=
XM_017000936.1:c.836T=	XP_016856425.1:p.Leu279=
NM_000815.5:c.131T= MANE Select	NP_000806.2:p.Leu44=