Canonical Allele Identifier: CA383671760
Gene: GNB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843043A>T , CM000674.2:g.6843043A>T GRCh38
NC_000012.11:g.6952207A>T , CM000674.1:g.6952207A>T GRCh37
NC_000012.10:g.6822468A>T NCBI36
NG_009100.1:g.7833A>T
NG_009100.2:g.7833A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.170A>T MANE Select ENSP00000229264.3:p.Lys57Met
ENST00000229264.7:c.170A>T ENSP00000229264.3:p.Lys57Met
ENST00000435982.6:c.170A>T ENSP00000414734.2:p.Lys57Met
ENST00000537035.1:c.170A>T ENSP00000445967.1:p.Lys57Met
ENST00000539127.5:c.*190A>T ENSP00000444325.1:n.*190A>T
ENST00000540458.5:n.1521A>T
ENST00000541257.5:c.170A>T ENSP00000442002.1:p.Lys57Met
ENST00000541978.5:c.170A>T ENSP00000439753.2:p.Lys57Met
NM_001297571.1:c.170A>T NP_001284500.1:p.Lys57Met
NM_002075.3:c.170A>T NP_002066.1:p.Lys57Met
XM_011520953.1:c.170A>T XP_011519255.1:p.Lys57Met
XM_011520954.1:c.170A>T XP_011519256.1:p.Lys57Met
XM_011520953.3:c.170A>T XP_011519255.1:p.Lys57Met
NM_001297571.2:c.170A>T NP_001284500.1:p.Lys57Met
NM_002075.4:c.170A>T MANE Select NP_002066.1:p.Lys57Met