Canonical Allele Identifier: CA534531

Gene: GABRD

Linked Data

• ClinVar Variation Id: 841651
• ClinVar RCV Id: RCV001043915
• dbSNP Id: rs749214783
• ExAC: 1:1956490 G / A
• gnomAD v2: 1-1956490-G-A
• gnomAD v4: 1-2025051-G-A
• MyVariant Identifiers: chr1:g.1956490G>A (hg19) ; chr1:g.2025051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025051G>A , CM000663.2:g.2025051G>A	GRCh38
NC_000001.10:g.1956490G>A , CM000663.1:g.1956490G>A	GRCh37
NC_000001.9:g.1946350G>A	NCBI36
NG_008168.1:g.10723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.178G>A MANE Select	ENSP00000367848.4:p.Gly60Arg
ENST00000638411.1:c.178G>A	ENSP00000491632.1:p.Gly60Arg
ENST00000638604.1:n.242G>A
ENST00000638771.1:c.178G>A	ENSP00000492435.1:p.Gly60Arg
ENST00000639045.1:c.*164G>A	ENSP00000491997.1:n.*164G>A
ENST00000639777.1:n.782G>A
ENST00000639935.1:n.215G>A
ENST00000640030.1:c.118G>A	ENSP00000491411.1:p.Gly40Arg
ENST00000640067.1:c.178G>A	ENSP00000491844.1:p.Gly60Arg
ENST00000640423.1:n.187G>A
ENST00000640949.1:c.178G>A	ENSP00000492500.1:p.Gly60Arg
ENST00000378585.5:c.178G>A	ENSP00000367848.4:p.Gly60Arg
NM_000815.4:c.178G>A	NP_000806.2:p.Gly60Arg
XM_011541194.1:c.217G>A	XP_011539496.1:p.Gly73Arg
XM_011541194.3:c.217G>A	XP_011539496.1:p.Gly73Arg
XM_017000936.1:c.883G>A	XP_016856425.1:p.Gly295Arg
NM_000815.5:c.178G>A MANE Select	NP_000806.2:p.Gly60Arg