Canonical Allele Identifier: CA1583240631
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132591977G= , CM000667.2:g.132591977G= GRCh38
NC_000005.9:g.131927669G= , CM000667.1:g.131927669G= GRCh37
NC_000005.8:g.131955568G= NCBI36
NG_021151.1:g.40054G=
NG_021151.2:g.40001G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1736G= MANE Select ENSP00000368100.4:p.Trp579=
ENST00000638452.2:c.1439G= ENSP00000492349.2:p.Trp480=
ENST00000638504.1:n.1422G=
ENST00000638568.2:c.1439G= ENSP00000491158.2:p.Trp480=
ENST00000639899.1:n.2255G=
ENST00000640655.2:c.1439G= ENSP00000491596.2:p.Trp480=
ENST00000651160.1:c.1736G= ENSP00000498829.1:p.Trp579=
ENST00000651541.1:c.1439G= ENSP00000498795.1:p.Trp480=
ENST00000651658.1:n.2163G=
ENST00000651723.1:c.*1819G= ENSP00000498237.1:n.*1819G=
ENST00000652016.1:c.1736G= ENSP00000498267.1:p.Trp579=
ENST00000652485.1:c.1769G= ENSP00000498973.1:p.Trp590=
ENST00000378823.7:c.1736G= ENSP00000368100.4:p.Trp579=
ENST00000423956.5:c.1635+571G= ENSP00000390971.1:n.1635+571G=
ENST00000434288.1:c.231G=
ENST00000453394.5:c.1553G= ENSP00000400049.1:p.Trp518=
ENST00000533482.5:c.*1362G= ENSP00000431225.1:n.*1362G=
NM_005732.3:c.1736G= NP_005723.2:p.Trp579=
NM_005732.4:c.1736G= MANE Select NP_005723.2:p.Trp579=