Canonical Allele Identifier: CA6417713

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6846783C>T , CM000674.2:g.6846783C>T GRCh38
NC_000012.11:g.6955947C>T , CM000674.1:g.6955947C>T GRCh37
NC_000012.10:g.6826208C>T NCBI36
NG_009100.1:g.11573C>T
NG_009100.2:g.11573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.917-9C>T (GNB3) MANE Select ENSP00000229264.3:n.917-9C>T
ENST00000229264.7:c.917-9C>T (GNB3) ENSP00000229264.3:n.917-9C>T
ENST00000422785.7:c.*5G>A (CDCA3) ENSP00000415142.2:n.*5G>A
ENST00000435982.6:c.914-9C>T (GNB3) ENSP00000414734.2:n.914-9C>T
ENST00000540458.5:n.2268-9C>T (GNB3)
ENST00000542751.1:n.437-9C>T (GNB3)
ENST00000603043.1:n.428G>A (CDCA3)
ENST00000604599.1:n.933G>A (CDCA3)
NM_001297571.1:c.914-9C>T (GNB3) NP_001284500.1:n.914-9C>T
NM_001297603.1:c.*5G>A (CDCA3) NP_001284532.1:n.*5G>A
NM_002075.3:c.917-9C>T (GNB3) NP_002066.1:n.917-9C>T
XM_011521027.1:c.*1103G>A (CDCA3) XP_011519329.1:n.*1103G>A
XM_011521028.1:c.*1103G>A (CDCA3) XP_011519330.1:n.*1103G>A
XM_011521029.1:c.*1321G>A (CDCA3) XP_011519331.1:n.*1321G>A
XM_011521030.1:c.*1254G>A (CDCA3) XP_011519332.1:n.*1254G>A
NM_001297603.2:c.*5G>A (CDCA3) NP_001284532.1:n.*5G>A
XR_001748879.2:n.2648G>A (CDCA3)
XR_001748880.2:n.1999G>A (CDCA3)
XR_001748881.2:n.1908G>A (CDCA3)
XR_002957383.1:n.2150G>A (CDCA3)
XR_002957384.1:n.3061G>A (CDCA3)
XR_002957385.1:n.2541G>A (CDCA3)
NM_001297571.2:c.914-9C>T (GNB3) NP_001284500.1:n.914-9C>T
NM_002075.4:c.917-9C>T (GNB3) MANE Select NP_002066.1:n.917-9C>T
NM_001297603.3:c.*5G>A (CDCA3) NP_001284532.1:n.*5G>A