Canonical Allele Identifier: CA2014278193

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845537T= , CM000674.2:g.6845537T= GRCh38
NC_000012.11:g.6954701T= , CM000674.1:g.6954701T= GRCh37
NC_000012.10:g.6824962T= NCBI36
NG_009100.1:g.10327T=
NG_009100.2:g.10327T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.700-49T= (GNB3) MANE Select ENSP00000229264.3:n.700-49T=
ENST00000229264.7:c.700-49T= (GNB3) ENSP00000229264.3:n.700-49T=
ENST00000422785.7:c.*1251A= (CDCA3) ENSP00000415142.2:n.*1251A=
ENST00000435982.6:c.697-49T= (GNB3) ENSP00000414734.2:n.697-49T=
ENST00000537035.1:c.577-49T= (GNB3) ENSP00000445967.1:n.577-49T=
ENST00000540458.5:n.2051-49T= (GNB3)
ENST00000542751.1:n.171T= (GNB3)
ENST00000603043.1:n.1317A= (CDCA3)
ENST00000604599.1:n.2179A= (CDCA3)
NM_001297571.1:c.697-49T= (GNB3) NP_001284500.1:n.697-49T=
NM_002075.3:c.700-49T= (GNB3) NP_002066.1:n.700-49T=
XM_011520953.1:c.700-49T= (GNB3) XP_011519255.1:n.700-49T=
XM_011520954.1:c.697-49T= (GNB3) XP_011519256.1:n.697-49T=
XM_011521027.1:c.*1992A= (CDCA3) XP_011519329.1:n.*1992A=
XM_011521028.1:c.*1992A= (CDCA3) XP_011519330.1:n.*1992A=
XM_011521029.1:c.*2210A= (CDCA3) XP_011519331.1:n.*2210A=
XM_011521030.1:c.*2143A= (CDCA3) XP_011519332.1:n.*2143A=
XM_011520953.3:c.700-49T= (GNB3) XP_011519255.1:n.700-49T=
XR_001748879.2:n.3537A= (CDCA3)
XR_001748880.2:n.2888A= (CDCA3)
XR_001748881.2:n.2797A= (CDCA3)
XR_002957383.1:n.3039A= (CDCA3)
XR_002957384.1:n.3950A= (CDCA3)
XR_002957385.1:n.3430A= (CDCA3)
NM_001297571.2:c.697-49T= (GNB3) NP_001284500.1:n.697-49T=
NM_002075.4:c.700-49T= (GNB3) MANE Select NP_002066.1:n.700-49T=
NM_001297603.3:c.*1251A= (CDCA3) NP_001284532.1:n.*1251A=