Canonical Allele Identifier: CA337955695

Gene: GABRD

Linked Data

• dbSNP Id: rs1194802055
• gnomAD v4: 1-2025031-G-A
• COSMIC: COSM1637395
• MyVariant Identifiers: chr1:g.1956470G>A (hg19) ; chr1:g.2025031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025031G>A , CM000663.2:g.2025031G>A	GRCh38
NC_000001.10:g.1956470G>A , CM000663.1:g.1956470G>A	GRCh37
NC_000001.9:g.1946330G>A	NCBI36
NG_008168.1:g.10703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.158G>A MANE Select	ENSP00000367848.4:p.Arg53His
ENST00000638411.1:c.158G>A	ENSP00000491632.1:p.Arg53His
ENST00000638604.1:n.222G>A
ENST00000638771.1:c.158G>A	ENSP00000492435.1:p.Arg53His
ENST00000639045.1:c.*144G>A	ENSP00000491997.1:n.*144G>A
ENST00000639777.1:n.762G>A
ENST00000639935.1:n.195G>A
ENST00000640030.1:c.98G>A	ENSP00000491411.1:p.Arg33His
ENST00000640067.1:c.158G>A	ENSP00000491844.1:p.Arg53His
ENST00000640423.1:n.167G>A
ENST00000640949.1:c.158G>A	ENSP00000492500.1:p.Arg53His
ENST00000378585.5:c.158G>A	ENSP00000367848.4:p.Arg53His
NM_000815.4:c.158G>A	NP_000806.2:p.Arg53His
XM_011541194.1:c.197G>A	XP_011539496.1:p.Arg66His
XM_011541194.3:c.197G>A	XP_011539496.1:p.Arg66His
XM_017000936.1:c.863G>A	XP_016856425.1:p.Arg288His
NM_000815.5:c.158G>A MANE Select	NP_000806.2:p.Arg53His