Canonical Allele Identifier: CA383675211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845722C>G , CM000674.2:g.6845722C>G GRCh38
NC_000012.11:g.6954886C>G , CM000674.1:g.6954886C>G GRCh37
NC_000012.10:g.6825147C>G NCBI36
NG_009100.1:g.10512C>G
NG_009100.2:g.10512C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.836C>G (GNB3) MANE Select ENSP00000229264.3:p.Ser279Cys
ENST00000229264.7:c.836C>G (GNB3) ENSP00000229264.3:p.Ser279Cys
ENST00000422785.7:c.*1066G>C (CDCA3) ENSP00000415142.2:n.*1066G>C
ENST00000435982.6:c.833C>G (GNB3) ENSP00000414734.2:p.Ser278Cys
ENST00000537035.1:c.713C>G (GNB3) ENSP00000445967.1:p.Ser238Cys
ENST00000540458.5:n.2187C>G (GNB3)
ENST00000542751.1:n.356C>G (GNB3)
ENST00000603043.1:n.1132G>C (CDCA3)
ENST00000604599.1:n.1994G>C (CDCA3)
NM_001297571.1:c.833C>G (GNB3) NP_001284500.1:p.Ser278Cys
NM_002075.3:c.836C>G (GNB3) NP_002066.1:p.Ser279Cys
XM_011520953.1:c.836C>G (GNB3) XP_011519255.1:p.Ser279Cys
XM_011520954.1:c.833C>G (GNB3) XP_011519256.1:p.Ser278Cys
XM_011521027.1:c.*1807G>C (CDCA3) XP_011519329.1:n.*1807G>C
XM_011521028.1:c.*1807G>C (CDCA3) XP_011519330.1:n.*1807G>C
XM_011521029.1:c.*2025G>C (CDCA3) XP_011519331.1:n.*2025G>C
XM_011521030.1:c.*1958G>C (CDCA3) XP_011519332.1:n.*1958G>C
XM_011520953.3:c.836C>G (GNB3) XP_011519255.1:p.Ser279Cys
XR_001748879.2:n.3352G>C (CDCA3)
XR_001748880.2:n.2703G>C (CDCA3)
XR_001748881.2:n.2612G>C (CDCA3)
XR_002957383.1:n.2854G>C (CDCA3)
XR_002957384.1:n.3765G>C (CDCA3)
XR_002957385.1:n.3245G>C (CDCA3)
NM_001297571.2:c.833C>G (GNB3) NP_001284500.1:p.Ser278Cys
NM_002075.4:c.836C>G (GNB3) MANE Select NP_002066.1:p.Ser279Cys
NM_001297603.3:c.*1066G>C (CDCA3) NP_001284532.1:n.*1066G>C