Canonical Allele Identifier: CA1583241879
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132595038C= , CM000667.2:g.132595038C= GRCh38
NC_000005.9:g.131930730C= , CM000667.1:g.131930730C= GRCh37
NC_000005.8:g.131958629C= NCBI36
NG_021151.1:g.43115C=
NG_021151.2:g.43062C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1963C= MANE Select ENSP00000368100.4:p.Gln655=
ENST00000638452.2:c.1666C= ENSP00000492349.2:p.Gln556=
ENST00000638504.1:n.1480-66C=
ENST00000638568.2:c.1666C= ENSP00000491158.2:p.Gln556=
ENST00000639899.1:n.2482C=
ENST00000640655.2:c.1666C= ENSP00000491596.2:p.Gln556=
ENST00000651160.1:c.*16-66C= ENSP00000498829.1:n.*16-66C=
ENST00000651658.1:n.2506C=
ENST00000651723.1:c.*2046C= ENSP00000498237.1:n.*2046C=
ENST00000652016.1:c.*89-66C= ENSP00000498267.1:n.*89-66C=
ENST00000652485.1:c.1996C= ENSP00000498973.1:p.Gln666=
ENST00000378823.7:c.1963C= ENSP00000368100.4:p.Gln655=
ENST00000423956.5:c.*149C= ENSP00000390971.1:n.*149C=
ENST00000453394.5:c.1780C= ENSP00000400049.1:p.Gln594=
ENST00000533482.5:c.*1589C= ENSP00000431225.1:n.*1589C=
NM_005732.3:c.1963C= NP_005723.2:p.Gln655=
NM_005732.4:c.1963C= MANE Select NP_005723.2:p.Gln655=