Canonical Allele Identifier: CA1583241834
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594950C= , CM000667.2:g.132594950C= GRCh38
NC_000005.9:g.131930642C= , CM000667.1:g.131930642C= GRCh37
NC_000005.8:g.131958541C= NCBI36
NG_021151.1:g.43027C=
NG_021151.2:g.42974C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1875C= MANE Select ENSP00000368100.4:p.Tyr625=
ENST00000638452.2:c.1578C= ENSP00000492349.2:p.Tyr526=
ENST00000638504.1:n.1480-154C=
ENST00000638568.2:c.1578C= ENSP00000491158.2:p.Tyr526=
ENST00000639899.1:n.2394C=
ENST00000640655.2:c.1578C= ENSP00000491596.2:p.Tyr526=
ENST00000651160.1:c.*16-154C= ENSP00000498829.1:n.*16-154C=
ENST00000651658.1:n.2418C=
ENST00000651723.1:c.*1958C= ENSP00000498237.1:n.*1958C=
ENST00000652016.1:c.*89-154C= ENSP00000498267.1:n.*89-154C=
ENST00000652485.1:c.1908C= ENSP00000498973.1:p.Tyr636=
ENST00000378823.7:c.1875C= ENSP00000368100.4:p.Tyr625=
ENST00000423956.5:c.*61C= ENSP00000390971.1:n.*61C=
ENST00000453394.5:c.1692C= ENSP00000400049.1:p.Tyr564=
ENST00000533482.5:c.*1501C= ENSP00000431225.1:n.*1501C=
NM_005732.3:c.1875C= NP_005723.2:p.Tyr625=
NM_005732.4:c.1875C= MANE Select NP_005723.2:p.Tyr625=