Canonical Allele Identifier: CA383675182

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845719T>A , CM000674.2:g.6845719T>A GRCh38
NC_000012.11:g.6954883T>A , CM000674.1:g.6954883T>A GRCh37
NC_000012.10:g.6825144T>A NCBI36
NG_009100.1:g.10509T>A
NG_009100.2:g.10509T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.833T>A (GNB3) MANE Select ENSP00000229264.3:p.Phe278Tyr
ENST00000229264.7:c.833T>A (GNB3) ENSP00000229264.3:p.Phe278Tyr
ENST00000422785.7:c.*1069A>T (CDCA3) ENSP00000415142.2:n.*1069A>T
ENST00000435982.6:c.830T>A (GNB3) ENSP00000414734.2:p.Phe277Tyr
ENST00000537035.1:c.710T>A (GNB3) ENSP00000445967.1:p.Phe237Tyr
ENST00000540458.5:n.2184T>A (GNB3)
ENST00000542751.1:n.353T>A (GNB3)
ENST00000603043.1:n.1135A>T (CDCA3)
ENST00000604599.1:n.1997A>T (CDCA3)
NM_001297571.1:c.830T>A (GNB3) NP_001284500.1:p.Phe277Tyr
NM_002075.3:c.833T>A (GNB3) NP_002066.1:p.Phe278Tyr
XM_011520953.1:c.833T>A (GNB3) XP_011519255.1:p.Phe278Tyr
XM_011520954.1:c.830T>A (GNB3) XP_011519256.1:p.Phe277Tyr
XM_011521027.1:c.*1810A>T (CDCA3) XP_011519329.1:n.*1810A>T
XM_011521028.1:c.*1810A>T (CDCA3) XP_011519330.1:n.*1810A>T
XM_011521029.1:c.*2028A>T (CDCA3) XP_011519331.1:n.*2028A>T
XM_011521030.1:c.*1961A>T (CDCA3) XP_011519332.1:n.*1961A>T
XM_011520953.3:c.833T>A (GNB3) XP_011519255.1:p.Phe278Tyr
XR_001748879.2:n.3355A>T (CDCA3)
XR_001748880.2:n.2706A>T (CDCA3)
XR_001748881.2:n.2615A>T (CDCA3)
XR_002957383.1:n.2857A>T (CDCA3)
XR_002957384.1:n.3768A>T (CDCA3)
XR_002957385.1:n.3248A>T (CDCA3)
NM_001297571.2:c.830T>A (GNB3) NP_001284500.1:p.Phe277Tyr
NM_002075.4:c.833T>A (GNB3) MANE Select NP_002066.1:p.Phe278Tyr
NM_001297603.3:c.*1069A>T (CDCA3) NP_001284532.1:n.*1069A>T