Canonical Allele Identifier: CA126276

Gene: GABRD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2028260G>A , CM000663.2:g.2028260G>A	GRCh38
NC_000001.10:g.1959699G>A , CM000663.1:g.1959699G>A	GRCh37
NC_000001.9:g.1949559G>A	NCBI36
NG_008168.1:g.13932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.659G>A MANE Select	ENSP00000367848.4:p.Arg220His
ENST00000638411.1:c.690G>A	ENSP00000491632.1:p.Pro230=
ENST00000638604.1:n.1218G>A
ENST00000638763.1:c.402G>A
ENST00000638771.1:c.659G>A	ENSP00000492435.1:p.Arg220His
ENST00000638804.1:c.137G>A	ENSP00000491871.1:p.Arg46His
ENST00000639045.1:c.*645G>A	ENSP00000491997.1:n.*645G>A
ENST00000639070.1:n.1238G>A
ENST00000639777.1:n.1263G>A
ENST00000640030.1:c.599G>A	ENSP00000491411.1:p.Arg200His
ENST00000640067.1:c.743G>A	ENSP00000491844.1:p.Arg248His
ENST00000640317.1:n.1008G>A
ENST00000640423.1:n.668G>A
ENST00000640892.1:n.1366G>A
ENST00000640949.1:c.659G>A	ENSP00000492500.1:p.Arg220His
ENST00000640981.1:c.466G>A
ENST00000378585.5:c.659G>A	ENSP00000367848.4:p.Arg220His
NM_000815.4:c.659G>A	NP_000806.2:p.Arg220His
XM_011541194.1:c.698G>A	XP_011539496.1:p.Arg233His
XM_011541194.3:c.698G>A	XP_011539496.1:p.Arg233His
XM_017000936.1:c.1364G>A	XP_016856425.1:p.Arg455His
NM_000815.5:c.659G>A MANE Select	NP_000806.2:p.Arg220His