Canonical Allele Identifier: CA2014278243

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845627C= , CM000674.2:g.6845627C= GRCh38
NC_000012.11:g.6954791C= , CM000674.1:g.6954791C= GRCh37
NC_000012.10:g.6825052C= NCBI36
NG_009100.1:g.10417C=
NG_009100.2:g.10417C=

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.741C= (GNB3) MANE Select ENSP00000229264.3:p.Asp247=
ENST00000229264.7:c.741C= (GNB3) ENSP00000229264.3:p.Asp247=
ENST00000422785.7:c.*1161G= (CDCA3) ENSP00000415142.2:n.*1161G=
ENST00000435982.6:c.738C= (GNB3) ENSP00000414734.2:p.Asp246=
ENST00000537035.1:c.618C= (GNB3) ENSP00000445967.1:p.Asp206=
ENST00000540458.5:n.2092C= (GNB3)
ENST00000542751.1:n.261C= (GNB3)
ENST00000603043.1:n.1227G= (CDCA3)
ENST00000604599.1:n.2089G= (CDCA3)
NM_001297571.1:c.738C= (GNB3) NP_001284500.1:p.Asp246=
NM_002075.3:c.741C= (GNB3) NP_002066.1:p.Asp247=
XM_011520953.1:c.741C= (GNB3) XP_011519255.1:p.Asp247=
XM_011520954.1:c.738C= (GNB3) XP_011519256.1:p.Asp246=
XM_011521027.1:c.*1902G= (CDCA3) XP_011519329.1:n.*1902G=
XM_011521028.1:c.*1902G= (CDCA3) XP_011519330.1:n.*1902G=
XM_011521029.1:c.*2120G= (CDCA3) XP_011519331.1:n.*2120G=
XM_011521030.1:c.*2053G= (CDCA3) XP_011519332.1:n.*2053G=
XM_011520953.3:c.741C= (GNB3) XP_011519255.1:p.Asp247=
XR_001748879.2:n.3447G= (CDCA3)
XR_001748880.2:n.2798G= (CDCA3)
XR_001748881.2:n.2707G= (CDCA3)
XR_002957383.1:n.2949G= (CDCA3)
XR_002957384.1:n.3860G= (CDCA3)
XR_002957385.1:n.3340G= (CDCA3)
NM_001297571.2:c.738C= (GNB3) NP_001284500.1:p.Asp246=
NM_002075.4:c.741C= (GNB3) MANE Select NP_002066.1:p.Asp247=
NM_001297603.3:c.*1161G= (CDCA3) NP_001284532.1:n.*1161G=