Canonical Allele Identifier: CA534516

Gene: GABRD

Linked Data

• ClinVar Variation Id: 460019
• ClinVar RCV Id: RCV000538743
• dbSNP Id: rs773911493
• ExAC: 1:1956408 G / C
• gnomAD v2: 1-1956408-G-C
• gnomAD v3: 1-2024969-G-C
• gnomAD v4: 1-2024969-G-C
• MyVariant Identifiers: chr1:g.1956408G>C (hg19) ; chr1:g.2024969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024969G>C , CM000663.2:g.2024969G>C	GRCh38
NC_000001.10:g.1956408G>C , CM000663.1:g.1956408G>C	GRCh37
NC_000001.9:g.1946268G>C	NCBI36
NG_008168.1:g.10641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.96G>C MANE Select	ENSP00000367848.4:p.Val32=
ENST00000638411.1:c.96G>C	ENSP00000491632.1:p.Val32=
ENST00000638604.1:n.160G>C
ENST00000638771.1:c.96G>C	ENSP00000492435.1:p.Val32=
ENST00000639045.1:c.*82G>C	ENSP00000491997.1:n.*82G>C
ENST00000639777.1:n.700G>C
ENST00000639935.1:n.133G>C
ENST00000640030.1:c.36G>C	ENSP00000491411.1:p.Val12=
ENST00000640067.1:c.96G>C	ENSP00000491844.1:p.Val32=
ENST00000640423.1:n.105G>C
ENST00000640949.1:c.96G>C	ENSP00000492500.1:p.Val32=
ENST00000378585.5:c.96G>C	ENSP00000367848.4:p.Val32=
NM_000815.4:c.96G>C	NP_000806.2:p.Val32=
XM_011541194.1:c.135G>C	XP_011539496.1:p.Val45=
XM_011541194.3:c.135G>C	XP_011539496.1:p.Val45=
XM_017000936.1:c.801G>C	XP_016856425.1:p.Val267=
NM_000815.5:c.96G>C MANE Select	NP_000806.2:p.Val32=