Canonical Allele Identifier: CA383674641

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845631T>C , CM000674.2:g.6845631T>C GRCh38
NC_000012.11:g.6954795T>C , CM000674.1:g.6954795T>C GRCh37
NC_000012.10:g.6825056T>C NCBI36
NG_009100.1:g.10421T>C
NG_009100.2:g.10421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.745T>C (GNB3) MANE Select ENSP00000229264.3:p.Ser249Pro
ENST00000229264.7:c.745T>C (GNB3) ENSP00000229264.3:p.Ser249Pro
ENST00000422785.7:c.*1157A>G (CDCA3) ENSP00000415142.2:n.*1157A>G
ENST00000435982.6:c.742T>C (GNB3) ENSP00000414734.2:p.Ser248Pro
ENST00000537035.1:c.622T>C (GNB3) ENSP00000445967.1:p.Ser208Pro
ENST00000540458.5:n.2096T>C (GNB3)
ENST00000542751.1:n.265T>C (GNB3)
ENST00000603043.1:n.1223A>G (CDCA3)
ENST00000604599.1:n.2085A>G (CDCA3)
NM_001297571.1:c.742T>C (GNB3) NP_001284500.1:p.Ser248Pro
NM_002075.3:c.745T>C (GNB3) NP_002066.1:p.Ser249Pro
XM_011520953.1:c.745T>C (GNB3) XP_011519255.1:p.Ser249Pro
XM_011520954.1:c.742T>C (GNB3) XP_011519256.1:p.Ser248Pro
XM_011521027.1:c.*1898A>G (CDCA3) XP_011519329.1:n.*1898A>G
XM_011521028.1:c.*1898A>G (CDCA3) XP_011519330.1:n.*1898A>G
XM_011521029.1:c.*2116A>G (CDCA3) XP_011519331.1:n.*2116A>G
XM_011521030.1:c.*2049A>G (CDCA3) XP_011519332.1:n.*2049A>G
XM_011520953.3:c.745T>C (GNB3) XP_011519255.1:p.Ser249Pro
XR_001748879.2:n.3443A>G (CDCA3)
XR_001748880.2:n.2794A>G (CDCA3)
XR_001748881.2:n.2703A>G (CDCA3)
XR_002957383.1:n.2945A>G (CDCA3)
XR_002957384.1:n.3856A>G (CDCA3)
XR_002957385.1:n.3336A>G (CDCA3)
NM_001297571.2:c.742T>C (GNB3) NP_001284500.1:p.Ser248Pro
NM_002075.4:c.745T>C (GNB3) MANE Select NP_002066.1:p.Ser249Pro
NM_001297603.3:c.*1157A>G (CDCA3) NP_001284532.1:n.*1157A>G