Canonical Allele Identifier: CA6417333
Community Standard Title: NM_002075.4(GNB3):c.5G>A (p.Gly2Glu)
Gene: GNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6841292G>A , CM000674.2:g.6841292G>A GRCh38
NC_000012.11:g.6950456G>A , CM000674.1:g.6950456G>A GRCh37
NC_000012.10:g.6820717G>A NCBI36
NG_009100.1:g.6082G>A
NG_033740.1:g.17920G>A
NG_009100.2:g.6082G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.5G>A MANE Select NP_002066.1:p.Gly2Glu
ENST00000229264.8:c.5G>A MANE Select ENSP00000229264.3:p.Gly2Glu
NM_001297571.1:c.5G>A NP_001284500.1:p.Gly2Glu
NM_001297571.2:c.5G>A NP_001284500.1:p.Gly2Glu
NM_002075.3:c.5G>A NP_002066.1:p.Gly2Glu
ENST00000229264.7:c.5G>A ENSP00000229264.3:p.Gly2Glu
ENST00000435982.6:c.5G>A ENSP00000414734.2:p.Gly2Glu
ENST00000537035.1:c.5G>A ENSP00000445967.1:p.Gly2Glu
ENST00000539127.5:c.5G>A ENSP00000444325.1:p.Gly2Glu
ENST00000540458.5:n.1115G>A
ENST00000541257.5:c.5G>A ENSP00000442002.1:p.Gly2Glu
ENST00000541978.5:c.5G>A ENSP00000439753.2:p.Gly2Glu
ENST00000542868.1:n.252G>A
ENST00000675241.1:c.5G>A ENSP00000501677.1:p.Gly2Glu
XM_011520953.1:c.5G>A XP_011519255.1:p.Gly2Glu
XM_011520953.3:c.5G>A XP_011519255.1:p.Gly2Glu
XM_011520954.1:c.5G>A XP_011519256.1:p.Gly2Glu