Canonical Allele Identifier: CA1583241795
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594886C= , CM000667.2:g.132594886C= GRCh38
NC_000005.9:g.131930578C= , CM000667.1:g.131930578C= GRCh37
NC_000005.8:g.131958477C= NCBI36
NG_021151.1:g.42963C=
NG_021151.2:g.42910C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1811C= MANE Select ENSP00000368100.4:p.Ser604=
ENST00000638452.2:c.1514C= ENSP00000492349.2:p.Ser505=
ENST00000638504.1:n.1480-218C=
ENST00000638568.2:c.1514C= ENSP00000491158.2:p.Ser505=
ENST00000639899.1:n.2330C=
ENST00000640655.2:c.1514C= ENSP00000491596.2:p.Ser505=
ENST00000651160.1:c.*16-218C= ENSP00000498829.1:n.*16-218C=
ENST00000651658.1:n.2354C=
ENST00000651723.1:c.*1894C= ENSP00000498237.1:n.*1894C=
ENST00000652016.1:c.*88+209C= ENSP00000498267.1:n.*88+209C=
ENST00000652485.1:c.1844C= ENSP00000498973.1:p.Ser615=
ENST00000378823.7:c.1811C= ENSP00000368100.4:p.Ser604=
ENST00000423956.5:c.1653C= ENSP00000390971.1:p.Ile551=
ENST00000453394.5:c.1628C= ENSP00000400049.1:p.Ser543=
ENST00000533482.5:c.*1437C= ENSP00000431225.1:n.*1437C=
NM_005732.3:c.1811C= NP_005723.2:p.Ser604=
NM_005732.4:c.1811C= MANE Select NP_005723.2:p.Ser604=