Canonical Allele Identifier: CA415448454

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025041-G-C
• MyVariant Identifiers: chr1:g.1956480G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025041G>C , CM000663.2:g.2025041G>C	GRCh38
NC_000001.10:g.1956480G>C , CM000663.1:g.1956480G>C	GRCh37
NC_000001.9:g.1946340G>C	NCBI36
NG_008168.1:g.10713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.168G>C MANE Select	ENSP00000367848.4:p.Arg56=
ENST00000638411.1:c.168G>C	ENSP00000491632.1:p.Arg56=
ENST00000638604.1:n.232G>C
ENST00000638771.1:c.168G>C	ENSP00000492435.1:p.Arg56=
ENST00000639045.1:c.*154G>C	ENSP00000491997.1:n.*154G>C
ENST00000639777.1:n.772G>C
ENST00000639935.1:n.205G>C
ENST00000640030.1:c.108G>C	ENSP00000491411.1:p.Arg36=
ENST00000640067.1:c.168G>C	ENSP00000491844.1:p.Arg56=
ENST00000640423.1:n.177G>C
ENST00000640949.1:c.168G>C	ENSP00000492500.1:p.Arg56=
ENST00000378585.5:c.168G>C	ENSP00000367848.4:p.Arg56=
NM_000815.4:c.168G>C	NP_000806.2:p.Arg56=
XM_011541194.1:c.207G>C	XP_011539496.1:p.Arg69=
XM_011541194.3:c.207G>C	XP_011539496.1:p.Arg69=
XM_017000936.1:c.873G>C	XP_016856425.1:p.Arg291=
NM_000815.5:c.168G>C MANE Select	NP_000806.2:p.Arg56=