Canonical Allele Identifier: CA1583241809
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594910A= , CM000667.2:g.132594910A= GRCh38
NC_000005.9:g.131930602A= , CM000667.1:g.131930602A= GRCh37
NC_000005.8:g.131958501A= NCBI36
NG_021151.1:g.42987A=
NG_021151.2:g.42934A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1835A= MANE Select ENSP00000368100.4:p.Asn612=
ENST00000638452.2:c.1538A= ENSP00000492349.2:p.Asn513=
ENST00000638504.1:n.1480-194A=
ENST00000638568.2:c.1538A= ENSP00000491158.2:p.Asn513=
ENST00000639899.1:n.2354A=
ENST00000640655.2:c.1538A= ENSP00000491596.2:p.Asn513=
ENST00000651160.1:c.*16-194A= ENSP00000498829.1:n.*16-194A=
ENST00000651658.1:n.2378A=
ENST00000651723.1:c.*1918A= ENSP00000498237.1:n.*1918A=
ENST00000652016.1:c.*89-194A= ENSP00000498267.1:n.*89-194A=
ENST00000652485.1:c.1868A= ENSP00000498973.1:p.Asn623=
ENST00000378823.7:c.1835A= ENSP00000368100.4:p.Asn612=
ENST00000423956.5:c.*21A= ENSP00000390971.1:n.*21A=
ENST00000453394.5:c.1652A= ENSP00000400049.1:p.Asn551=
ENST00000533482.5:c.*1461A= ENSP00000431225.1:n.*1461A=
NM_005732.3:c.1835A= NP_005723.2:p.Asn612=
NM_005732.4:c.1835A= MANE Select NP_005723.2:p.Asn612=