Canonical Allele Identifier: CA337955776

Gene: GABRD

Linked Data

• dbSNP Id: rs1279735001
• gnomAD v2: 1-1956487-A-G
• gnomAD v4: 1-2025048-A-G
• MyVariant Identifiers: chr1:g.1956487A>G (hg19) ; chr1:g.2025048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2025048A>G , CM000663.2:g.2025048A>G	GRCh38
NC_000001.10:g.1956487A>G , CM000663.1:g.1956487A>G	GRCh37
NC_000001.9:g.1946347A>G	NCBI36
NG_008168.1:g.10720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.175A>G MANE Select	ENSP00000367848.4:p.Ile59Val
ENST00000638411.1:c.175A>G	ENSP00000491632.1:p.Ile59Val
ENST00000638604.1:n.239A>G
ENST00000638771.1:c.175A>G	ENSP00000492435.1:p.Ile59Val
ENST00000639045.1:c.*161A>G	ENSP00000491997.1:n.*161A>G
ENST00000639777.1:n.779A>G
ENST00000639935.1:n.212A>G
ENST00000640030.1:c.115A>G	ENSP00000491411.1:p.Ile39Val
ENST00000640067.1:c.175A>G	ENSP00000491844.1:p.Ile59Val
ENST00000640423.1:n.184A>G
ENST00000640949.1:c.175A>G	ENSP00000492500.1:p.Ile59Val
ENST00000378585.5:c.175A>G	ENSP00000367848.4:p.Ile59Val
NM_000815.4:c.175A>G	NP_000806.2:p.Ile59Val
XM_011541194.1:c.214A>G	XP_011539496.1:p.Ile72Val
XM_011541194.3:c.214A>G	XP_011539496.1:p.Ile72Val
XM_017000936.1:c.880A>G	XP_016856425.1:p.Ile294Val
NM_000815.5:c.175A>G MANE Select	NP_000806.2:p.Ile59Val