Canonical Allele Identifier: CA337955571

Gene: GABRD

Linked Data

• gnomAD v4: 1-2025003-C-G
• MyVariant Identifiers: chr1:g.1956442C>G (hg19) ; chr1:g.2025003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025003C>G , CM000663.2:g.2025003C>G	GRCh38
NC_000001.10:g.1956442C>G , CM000663.1:g.1956442C>G	GRCh37
NC_000001.9:g.1946302C>G	NCBI36
NG_008168.1:g.10675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.130C>G MANE Select	ENSP00000367848.4:p.Leu44Val
ENST00000638411.1:c.130C>G	ENSP00000491632.1:p.Leu44Val
ENST00000638604.1:n.194C>G
ENST00000638771.1:c.130C>G	ENSP00000492435.1:p.Leu44Val
ENST00000639045.1:c.*116C>G	ENSP00000491997.1:n.*116C>G
ENST00000639777.1:n.734C>G
ENST00000639935.1:n.167C>G
ENST00000640030.1:c.70C>G	ENSP00000491411.1:p.Leu24Val
ENST00000640067.1:c.130C>G	ENSP00000491844.1:p.Leu44Val
ENST00000640423.1:n.139C>G
ENST00000640949.1:c.130C>G	ENSP00000492500.1:p.Leu44Val
ENST00000378585.5:c.130C>G	ENSP00000367848.4:p.Leu44Val
NM_000815.4:c.130C>G	NP_000806.2:p.Leu44Val
XM_011541194.1:c.169C>G	XP_011539496.1:p.Leu57Val
XM_011541194.3:c.169C>G	XP_011539496.1:p.Leu57Val
XM_017000936.1:c.835C>G	XP_016856425.1:p.Leu279Val
NM_000815.5:c.130C>G MANE Select	NP_000806.2:p.Leu44Val