Canonical Allele Identifier: CA383671752

Gene: GNB3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843042A>G , CM000674.2:g.6843042A>G	GRCh38
NC_000012.11:g.6952206A>G , CM000674.1:g.6952206A>G	GRCh37
NC_000012.10:g.6822467A>G	NCBI36
NG_009100.1:g.7832A>G
NG_009100.2:g.7832A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002075.4:c.169A>G MANE Select	NP_002066.1:p.Lys57Glu
ENST00000229264.8:c.169A>G MANE Select	ENSP00000229264.3:p.Lys57Glu
NM_001297571.1:c.169A>G	NP_001284500.1:p.Lys57Glu
NM_001297571.2:c.169A>G	NP_001284500.1:p.Lys57Glu
NM_002075.3:c.169A>G	NP_002066.1:p.Lys57Glu
ENST00000229264.7:c.169A>G	ENSP00000229264.3:p.Lys57Glu
ENST00000435982.6:c.169A>G	ENSP00000414734.2:p.Lys57Glu
ENST00000537035.1:c.169A>G	ENSP00000445967.1:p.Lys57Glu
ENST00000539127.5:c.*189A>G	ENSP00000444325.1:n.*189A>G
ENST00000540458.5:n.1520A>G
ENST00000541257.5:c.169A>G	ENSP00000442002.1:p.Lys57Glu
ENST00000541978.5:c.169A>G	ENSP00000439753.2:p.Lys57Glu
XM_011520953.1:c.169A>G	XP_011519255.1:p.Lys57Glu
XM_011520953.3:c.169A>G	XP_011519255.1:p.Lys57Glu
XM_011520954.1:c.169A>G	XP_011519256.1:p.Lys57Glu