Canonical Allele Identifier: CA534523

Gene: GABRD

Linked Data

• dbSNP Id: rs755330547
• ExAC: 1:1956453 G / A
• gnomAD v2: 1-1956453-G-A
• gnomAD v3: 1-2025014-G-A
• gnomAD v4: 1-2025014-G-A
• MyVariant Identifiers: chr1:g.1956453G>A (hg19) ; chr1:g.2025014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025014G>A , CM000663.2:g.2025014G>A	GRCh38
NC_000001.10:g.1956453G>A , CM000663.1:g.1956453G>A	GRCh37
NC_000001.9:g.1946313G>A	NCBI36
NG_008168.1:g.10686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.141G>A MANE Select	ENSP00000367848.4:p.Leu47=
ENST00000638411.1:c.141G>A	ENSP00000491632.1:p.Leu47=
ENST00000638604.1:n.205G>A
ENST00000638771.1:c.141G>A	ENSP00000492435.1:p.Leu47=
ENST00000639045.1:c.*127G>A	ENSP00000491997.1:n.*127G>A
ENST00000639777.1:n.745G>A
ENST00000639935.1:n.178G>A
ENST00000640030.1:c.81G>A	ENSP00000491411.1:p.Leu27=
ENST00000640067.1:c.141G>A	ENSP00000491844.1:p.Leu47=
ENST00000640423.1:n.150G>A
ENST00000640949.1:c.141G>A	ENSP00000492500.1:p.Leu47=
ENST00000378585.5:c.141G>A	ENSP00000367848.4:p.Leu47=
NM_000815.4:c.141G>A	NP_000806.2:p.Leu47=
XM_011541194.1:c.180G>A	XP_011539496.1:p.Leu60=
XM_011541194.3:c.180G>A	XP_011539496.1:p.Leu60=
XM_017000936.1:c.846G>A	XP_016856425.1:p.Leu282=
NM_000815.5:c.141G>A MANE Select	NP_000806.2:p.Leu47=