Canonical Allele Identifier: CA348123
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594906A>G , CM000667.2:g.132594906A>G GRCh38
NC_000005.9:g.131930598A>G , CM000667.1:g.131930598A>G GRCh37
NC_000005.8:g.131958497A>G NCBI36
NG_021151.1:g.42983A>G
NG_021151.2:g.42930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1831A>G MANE Select ENSP00000368100.4:p.Ile611Val
ENST00000638452.2:c.1534A>G ENSP00000492349.2:p.Ile512Val
ENST00000638504.1:n.1480-198A>G
ENST00000638568.2:c.1534A>G ENSP00000491158.2:p.Ile512Val
ENST00000639899.1:n.2350A>G
ENST00000640655.2:c.1534A>G ENSP00000491596.2:p.Ile512Val
ENST00000651160.1:c.*16-198A>G ENSP00000498829.1:n.*16-198A>G
ENST00000651658.1:n.2374A>G
ENST00000651723.1:c.*1914A>G ENSP00000498237.1:n.*1914A>G
ENST00000652016.1:c.*89-198A>G ENSP00000498267.1:n.*89-198A>G
ENST00000652485.1:c.1864A>G ENSP00000498973.1:p.Ile622Val
ENST00000378823.7:c.1831A>G ENSP00000368100.4:p.Ile611Val
ENST00000423956.5:c.*17A>G ENSP00000390971.1:n.*17A>G
ENST00000453394.5:c.1648A>G ENSP00000400049.1:p.Ile550Val
ENST00000533482.5:c.*1457A>G ENSP00000431225.1:n.*1457A>G
NM_005732.3:c.1831A>G NP_005723.2:p.Ile611Val
NM_005732.4:c.1831A>G MANE Select NP_005723.2:p.Ile611Val