Canonical Allele Identifier: CA1141580533

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2027636A= , CM000663.2:g.2027636A=	GRCh38
NC_000001.10:g.1959075A= , CM000663.1:g.1959075A=	GRCh37
NC_000001.9:g.1948935A=	NCBI36
NG_008168.1:g.13308A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.530A= MANE Select	ENSP00000367848.4:p.Glu177=
ENST00000638411.1:c.561A=	ENSP00000491632.1:p.Gly187=
ENST00000638604.1:n.594A=
ENST00000638763.1:c.273A=
ENST00000638771.1:c.530A=	ENSP00000492435.1:p.Glu177=
ENST00000638804.1:c.8A=	ENSP00000491871.1:p.Glu3=
ENST00000639045.1:c.*516A=	ENSP00000491997.1:n.*516A=
ENST00000639070.1:n.1109A=
ENST00000639777.1:n.1134A=
ENST00000640030.1:c.470A=	ENSP00000491411.1:p.Glu157=
ENST00000640067.1:c.530A=	ENSP00000491844.1:p.Glu177=
ENST00000640317.1:n.384A=
ENST00000640423.1:n.539A=
ENST00000640892.1:n.742A=
ENST00000640949.1:c.530A=	ENSP00000492500.1:p.Glu177=
ENST00000640981.1:c.337A=
ENST00000378585.5:c.530A=	ENSP00000367848.4:p.Glu177=
NM_000815.4:c.530A=	NP_000806.2:p.Glu177=
XM_011541194.1:c.569A=	XP_011539496.1:p.Glu190=
XM_011541194.3:c.569A=	XP_011539496.1:p.Glu190=
XM_017000936.1:c.1235A=	XP_016856425.1:p.Glu412=
NM_000815.5:c.530A= MANE Select	NP_000806.2:p.Glu177=