Canonical Allele Identifier: CA383671284
Community Standard Title: NM_002075.4(GNB3):c.4G>C (p.Gly2Arg)
Gene: GNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6841291G>C , CM000674.2:g.6841291G>C GRCh38
NC_000012.11:g.6950455G>C , CM000674.1:g.6950455G>C GRCh37
NC_000012.10:g.6820716G>C NCBI36
NG_009100.1:g.6081G>C
NG_033740.1:g.17919G>C
NG_009100.2:g.6081G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.4G>C MANE Select NP_002066.1:p.Gly2Arg
ENST00000229264.8:c.4G>C MANE Select ENSP00000229264.3:p.Gly2Arg
NM_001297571.1:c.4G>C NP_001284500.1:p.Gly2Arg
NM_001297571.2:c.4G>C NP_001284500.1:p.Gly2Arg
NM_002075.3:c.4G>C NP_002066.1:p.Gly2Arg
ENST00000229264.7:c.4G>C ENSP00000229264.3:p.Gly2Arg
ENST00000435982.6:c.4G>C ENSP00000414734.2:p.Gly2Arg
ENST00000537035.1:c.4G>C ENSP00000445967.1:p.Gly2Arg
ENST00000539127.5:c.4G>C ENSP00000444325.1:p.Gly2Arg
ENST00000540458.5:n.1114G>C
ENST00000541257.5:c.4G>C ENSP00000442002.1:p.Gly2Arg
ENST00000541978.5:c.4G>C ENSP00000439753.2:p.Gly2Arg
ENST00000542868.1:n.251G>C
ENST00000675241.1:c.4G>C ENSP00000501677.1:p.Gly2Arg
XM_011520953.1:c.4G>C XP_011519255.1:p.Gly2Arg
XM_011520953.3:c.4G>C XP_011519255.1:p.Gly2Arg
XM_011520954.1:c.4G>C XP_011519256.1:p.Gly2Arg