Canonical Allele Identifier: CA520658536

Gene: GABRD

Linked Data

• dbSNP Id: rs1182569981
• gnomAD v2: 1-1955927-C-G
• MyVariant Identifiers: chr1:g.1955927C>G (hg19) ; chr1:g.2024488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024488C>G , CM000663.2:g.2024488C>G	GRCh38
NC_000001.10:g.1955927C>G , CM000663.1:g.1955927C>G	GRCh37
NC_000001.9:g.1945787C>G	NCBI36
NG_008168.1:g.10160C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-454C>G MANE Select	ENSP00000367848.4:n.69-454C>G
ENST00000638411.1:c.69-454C>G	ENSP00000491632.1:n.69-454C>G
ENST00000638604.1:n.133-454C>G
ENST00000638771.1:c.69-454C>G	ENSP00000492435.1:n.69-454C>G
ENST00000639045.1:c.*55-454C>G	ENSP00000491997.1:n.*55-454C>G
ENST00000639777.1:n.219C>G
ENST00000639935.1:n.106-454C>G
ENST00000640030.1:c.9-454C>G	ENSP00000491411.1:n.9-454C>G
ENST00000640067.1:c.69-454C>G	ENSP00000491844.1:n.69-454C>G
ENST00000640423.1:n.78-454C>G
ENST00000640949.1:c.69-454C>G	ENSP00000492500.1:n.69-454C>G
ENST00000378585.5:c.69-454C>G	ENSP00000367848.4:n.69-454C>G
NM_000815.4:c.69-454C>G	NP_000806.2:n.69-454C>G
XM_011541194.1:c.108-454C>G	XP_011539496.1:n.108-454C>G
XM_011541194.3:c.108-454C>G	XP_011539496.1:n.108-454C>G
XM_017000936.1:c.320C>G	XP_016856425.1:p.Ser107Cys
NM_000815.5:c.69-454C>G MANE Select	NP_000806.2:n.69-454C>G