Canonical Allele Identifier: CA1141878278

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2030014C= , CM000663.2:g.2030014C=	GRCh38
NC_000001.10:g.1961453C= , CM000663.1:g.1961453C=	GRCh37
NC_000001.9:g.1951313C=	NCBI36
NG_008168.1:g.15686C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.1091C= MANE Select	ENSP00000367848.4:p.Ser364=
ENST00000638411.1:c.1122C=	ENSP00000491632.1:p.Leu374=
ENST00000638604.1:n.1650C=
ENST00000638771.1:c.1311C=	ENSP00000492435.1:p.Leu437=
ENST00000639070.1:n.1670C=
ENST00000639777.1:n.1695C=
ENST00000640030.1:c.875C=	ENSP00000491411.1:p.Ser292=
ENST00000640067.1:c.1175C=	ENSP00000491844.1:p.Ser392=
ENST00000640317.1:n.1440C=
ENST00000640423.1:n.1100C=
ENST00000640688.1:n.592C=
ENST00000640892.1:n.1758C=
ENST00000640949.1:c.1022C=	ENSP00000492500.1:p.Ser341=
ENST00000378585.5:c.1091C=	ENSP00000367848.4:p.Ser364=
NM_000815.4:c.1091C=	NP_000806.2:p.Ser364=
XM_011541194.1:c.1130C=	XP_011539496.1:p.Ser377=
XM_011541194.3:c.1130C=	XP_011539496.1:p.Ser377=
XM_017000936.1:c.1796C=	XP_016856425.1:p.Ser599=
NM_000815.5:c.1091C= MANE Select	NP_000806.2:p.Ser364=