Canonical Allele Identifier: CA478155492
Community Standard Title: NM_002075.4(GNB3):c.39G>A (p.Gln13=)
Gene: GNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6841326G>A , CM000674.2:g.6841326G>A GRCh38
NC_000012.11:g.6950490G>A , CM000674.1:g.6950490G>A GRCh37
NC_000012.10:g.6820751G>A NCBI36
NG_009100.1:g.6116G>A
NG_033740.1:g.17954G>A
NG_009100.2:g.6116G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.39G>A MANE Select NP_002066.1:p.Gln13=
ENST00000229264.8:c.39G>A MANE Select ENSP00000229264.3:p.Gln13=
NM_001297571.1:c.39G>A NP_001284500.1:p.Gln13=
NM_001297571.2:c.39G>A NP_001284500.1:p.Gln13=
NM_002075.3:c.39G>A NP_002066.1:p.Gln13=
ENST00000229264.7:c.39G>A ENSP00000229264.3:p.Gln13=
ENST00000435982.6:c.39G>A ENSP00000414734.2:p.Gln13=
ENST00000537035.1:c.39G>A ENSP00000445967.1:p.Gln13=
ENST00000539127.5:c.39G>A ENSP00000444325.1:p.Gln13=
ENST00000540458.5:n.1149G>A
ENST00000541257.5:c.39G>A ENSP00000442002.1:p.Gln13=
ENST00000541978.5:c.39G>A ENSP00000439753.2:p.Gln13=
ENST00000542868.1:n.286G>A
ENST00000675241.1:c.39G>A ENSP00000501677.1:p.Gln13=
XM_011520953.1:c.39G>A XP_011519255.1:p.Gln13=
XM_011520953.3:c.39G>A XP_011519255.1:p.Gln13=
XM_011520954.1:c.39G>A XP_011519256.1:p.Gln13=