Canonical Allele Identifier: CA534500

Gene: GABRD

Linked Data

• ClinVar Variation Id: 256824
• ClinVar RCV Id: RCV000245842 ; RCV002057405 ; RCV003343729
• dbSNP Id: rs2376805
• ExAC: 1:1956362 G / A
• gnomAD v2: 1-1956362-G-A
• gnomAD v3: 1-2024923-G-A
• gnomAD v4: 1-2024923-G-A
• MyVariant Identifiers: chr1:g.1956362G>A (hg19) ; chr1:g.2024923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024923G>A , CM000663.2:g.2024923G>A	GRCh38
NC_000001.10:g.1956362G>A , CM000663.1:g.1956362G>A	GRCh37
NC_000001.9:g.1946222G>A	NCBI36
NG_008168.1:g.10595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-19G>A MANE Select	ENSP00000367848.4:n.69-19G>A
ENST00000638411.1:c.69-19G>A	ENSP00000491632.1:n.69-19G>A
ENST00000638604.1:n.133-19G>A
ENST00000638771.1:c.69-19G>A	ENSP00000492435.1:n.69-19G>A
ENST00000639045.1:c.*55-19G>A	ENSP00000491997.1:n.*55-19G>A
ENST00000639777.1:n.654G>A
ENST00000639935.1:n.106-19G>A
ENST00000640030.1:c.9-19G>A	ENSP00000491411.1:n.9-19G>A
ENST00000640067.1:c.69-19G>A	ENSP00000491844.1:n.69-19G>A
ENST00000640423.1:n.78-19G>A
ENST00000640949.1:c.69-19G>A	ENSP00000492500.1:n.69-19G>A
ENST00000378585.5:c.69-19G>A	ENSP00000367848.4:n.69-19G>A
NM_000815.4:c.69-19G>A	NP_000806.2:n.69-19G>A
XM_011541194.1:c.108-19G>A	XP_011539496.1:n.108-19G>A
XM_011541194.3:c.108-19G>A	XP_011539496.1:n.108-19G>A
XM_017000936.1:c.755G>A	XP_016856425.1:p.Arg252Gln
NM_000815.5:c.69-19G>A MANE Select	NP_000806.2:n.69-19G>A