Canonical Allele Identifier: CA383675152

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845712G>T , CM000674.2:g.6845712G>T GRCh38
NC_000012.11:g.6954876G>T , CM000674.1:g.6954876G>T GRCh37
NC_000012.10:g.6825137G>T NCBI36
NG_009100.1:g.10502G>T
NG_009100.2:g.10502G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.826G>T (GNB3) MANE Select ENSP00000229264.3:p.Val276Leu
ENST00000229264.7:c.826G>T (GNB3) ENSP00000229264.3:p.Val276Leu
ENST00000422785.7:c.*1076C>A (CDCA3) ENSP00000415142.2:n.*1076C>A
ENST00000435982.6:c.823G>T (GNB3) ENSP00000414734.2:p.Val275Leu
ENST00000537035.1:c.703G>T (GNB3) ENSP00000445967.1:p.Val235Leu
ENST00000540458.5:n.2177G>T (GNB3)
ENST00000542751.1:n.346G>T (GNB3)
ENST00000603043.1:n.1142C>A (CDCA3)
ENST00000604599.1:n.2004C>A (CDCA3)
NM_001297571.1:c.823G>T (GNB3) NP_001284500.1:p.Val275Leu
NM_002075.3:c.826G>T (GNB3) NP_002066.1:p.Val276Leu
XM_011520953.1:c.826G>T (GNB3) XP_011519255.1:p.Val276Leu
XM_011520954.1:c.823G>T (GNB3) XP_011519256.1:p.Val275Leu
XM_011521027.1:c.*1817C>A (CDCA3) XP_011519329.1:n.*1817C>A
XM_011521028.1:c.*1817C>A (CDCA3) XP_011519330.1:n.*1817C>A
XM_011521029.1:c.*2035C>A (CDCA3) XP_011519331.1:n.*2035C>A
XM_011521030.1:c.*1968C>A (CDCA3) XP_011519332.1:n.*1968C>A
XM_011520953.3:c.826G>T (GNB3) XP_011519255.1:p.Val276Leu
XR_001748879.2:n.3362C>A (CDCA3)
XR_001748880.2:n.2713C>A (CDCA3)
XR_001748881.2:n.2622C>A (CDCA3)
XR_002957383.1:n.2864C>A (CDCA3)
XR_002957384.1:n.3775C>A (CDCA3)
XR_002957385.1:n.3255C>A (CDCA3)
NM_001297571.2:c.823G>T (GNB3) NP_001284500.1:p.Val275Leu
NM_002075.4:c.826G>T (GNB3) MANE Select NP_002066.1:p.Val276Leu
NM_001297603.3:c.*1076C>A (CDCA3) NP_001284532.1:n.*1076C>A