Canonical Allele Identifier: CA2014278278
Community Standard Title: NM_002075.4(GNB3):c.814G= (p.Gly272=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845700G= , CM000674.2:g.6845700G= GRCh38
NC_000012.11:g.6954864G= , CM000674.1:g.6954864G= GRCh37
NC_000012.10:g.6825125G= NCBI36
NG_009100.1:g.10490G=
NG_009100.2:g.10490G=

Transcript Alleles

HGVS Amino-acid Change
NM_002075.4:c.814G= (GNB3) MANE Select NP_002066.1:p.Gly272=
ENST00000229264.8:c.814G= (GNB3) MANE Select ENSP00000229264.3:p.Gly272=
NM_001297571.1:c.811G= (GNB3) NP_001284500.1:p.Gly271=
NM_001297571.2:c.811G= (GNB3) NP_001284500.1:p.Gly271=
NM_001297603.3:c.*1088C= (CDCA3) NP_001284532.1:n.*1088C=
NM_002075.3:c.814G= (GNB3) NP_002066.1:p.Gly272=
ENST00000229264.7:c.814G= (GNB3) ENSP00000229264.3:p.Gly272=
ENST00000422785.7:c.*1088C= (CDCA3) ENSP00000415142.2:n.*1088C=
ENST00000435982.6:c.811G= (GNB3) ENSP00000414734.2:p.Gly271=
ENST00000537035.1:c.691G= (GNB3) ENSP00000445967.1:p.Gly231=
ENST00000540458.5:n.2165G= (GNB3)
ENST00000542751.1:n.334G= (GNB3)
ENST00000603043.1:n.1154C= (CDCA3)
ENST00000604599.1:n.2016C= (CDCA3)
XM_011520953.1:c.814G= (GNB3) XP_011519255.1:p.Gly272=
XM_011520953.3:c.814G= (GNB3) XP_011519255.1:p.Gly272=
XM_011520954.1:c.811G= (GNB3) XP_011519256.1:p.Gly271=
XM_011521027.1:c.*1829C= (CDCA3) XP_011519329.1:n.*1829C=
XM_011521028.1:c.*1829C= (CDCA3) XP_011519330.1:n.*1829C=
XM_011521029.1:c.*2047C= (CDCA3) XP_011519331.1:n.*2047C=
XM_011521030.1:c.*1980C= (CDCA3) XP_011519332.1:n.*1980C=
XR_001748879.2:n.3374C= (CDCA3)
XR_001748880.2:n.2725C= (CDCA3)
XR_001748881.2:n.2634C= (CDCA3)
XR_002957383.1:n.2876C= (CDCA3)
XR_002957384.1:n.3787C= (CDCA3)
XR_002957385.1:n.3267C= (CDCA3)