Canonical Allele Identifier: CA3293740
Gene: RAD17 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69393495T>C , CM000667.2:g.69393495T>C GRCh38
NC_000005.9:g.68689322T>C , CM000667.1:g.68689322T>C GRCh37
NC_000005.8:g.68725078T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354868.10:c.1417T>C MANE Select ENSP00000346938.5:p.Trp473Arg
ENST00000282891.10:c.1159T>C ENSP00000282891.6:p.Trp387Arg
ENST00000305138.8:c.1417T>C ENSP00000303134.4:p.Trp473Arg
ENST00000345306.10:c.1417T>C ENSP00000311227.7:p.Trp473Arg
ENST00000354312.7:c.1417T>C ENSP00000346271.3:p.Trp473Arg
ENST00000354868.9:c.1417T>C ENSP00000346938.5:p.Trp473Arg
ENST00000358030.6:c.922T>C ENSP00000350725.2:p.Trp308Arg
ENST00000361732.6:c.1417T>C ENSP00000355226.2:p.Trp473Arg
ENST00000380774.7:c.1450T>C ENSP00000370151.3:p.Trp484Arg
ENST00000504177.5:n.251-17019T>C
ENST00000508320.1:c.798T>C ENSP00000424289.1:n.798T>C
ENST00000509734.5:c.1450T>C ENSP00000426191.1:p.Trp484Arg
ENST00000513214.1:c.274T>C ENSP00000425005.1:p.Trp92Arg
ENST00000521422.5:c.922T>C ENSP00000427743.1:p.Trp308Arg
ENST00000616683.4:c.1417T>C ENSP00000482775.1:p.Trp473Arg
NM_001278622.1:c.1417T>C NP_001265551.1:p.Trp473Arg
NM_002873.1:c.1417T>C NP_002864.1:p.Trp473Arg
NM_133338.2:c.1417T>C NP_579916.1:p.Trp473Arg
NM_133339.2:c.1450T>C NP_579917.1:p.Trp484Arg
NM_133340.2:c.922T>C NP_579918.1:p.Trp308Arg
NM_133341.2:c.1159T>C NP_579919.1:p.Trp387Arg
NM_133342.2:c.1417T>C NP_579920.1:p.Trp473Arg
NM_133343.1:c.1417T>C NP_579921.1:p.Trp473Arg
NM_133344.2:c.1417T>C NP_579922.1:p.Trp473Arg
XM_017009681.1:c.1417T>C XP_016865170.1:p.Trp473Arg
NM_133338.3:c.1417T>C MANE Select NP_579916.1:p.Trp473Arg
NM_133342.3:c.1417T>C NP_579920.1:p.Trp473Arg
NM_133344.3:c.1417T>C NP_579922.1:p.Trp473Arg
NM_133343.2:c.1417T>C NP_579921.1:p.Trp473Arg