Canonical Allele Identifier: CA337955637

Gene: GABRD

Linked Data

• dbSNP Id: rs1658879413
• gnomAD v3: 1-2025017-A-G
• gnomAD v4: 1-2025017-A-G
• MyVariant Identifiers: chr1:g.1956456A>G (hg19) ; chr1:g.2025017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025017A>G , CM000663.2:g.2025017A>G	GRCh38
NC_000001.10:g.1956456A>G , CM000663.1:g.1956456A>G	GRCh37
NC_000001.9:g.1946316A>G	NCBI36
NG_008168.1:g.10689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.144A>G MANE Select	ENSP00000367848.4:p.Ile48Met
ENST00000638411.1:c.144A>G	ENSP00000491632.1:p.Ile48Met
ENST00000638604.1:n.208A>G
ENST00000638771.1:c.144A>G	ENSP00000492435.1:p.Ile48Met
ENST00000639045.1:c.*130A>G	ENSP00000491997.1:n.*130A>G
ENST00000639777.1:n.748A>G
ENST00000639935.1:n.181A>G
ENST00000640030.1:c.84A>G	ENSP00000491411.1:p.Ile28Met
ENST00000640067.1:c.144A>G	ENSP00000491844.1:p.Ile48Met
ENST00000640423.1:n.153A>G
ENST00000640949.1:c.144A>G	ENSP00000492500.1:p.Ile48Met
ENST00000378585.5:c.144A>G	ENSP00000367848.4:p.Ile48Met
NM_000815.4:c.144A>G	NP_000806.2:p.Ile48Met
XM_011541194.1:c.183A>G	XP_011539496.1:p.Ile61Met
XM_011541194.3:c.183A>G	XP_011539496.1:p.Ile61Met
XM_017000936.1:c.849A>G	XP_016856425.1:p.Ile283Met
NM_000815.5:c.144A>G MANE Select	NP_000806.2:p.Ile48Met