Canonical Allele Identifier: CA1583246326
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604931C= , CM000667.2:g.132604931C= GRCh38
NC_000005.9:g.131940623C= , CM000667.1:g.131940623C= GRCh37
NC_000005.8:g.131968522C= NCBI36
NG_021151.1:g.53008C=
NG_021151.2:g.52955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2650C= MANE Select ENSP00000368100.4:p.Arg884=
ENST00000638452.2:c.2353C= ENSP00000492349.2:p.Arg785=
ENST00000638504.1:n.2258C=
ENST00000638568.2:c.2353C= ENSP00000491158.2:p.Arg785=
ENST00000639899.1:n.3169C=
ENST00000640655.2:c.2353C= ENSP00000491596.2:p.Arg785=
ENST00000651160.1:c.*794C= ENSP00000498829.1:n.*794C=
ENST00000651723.1:c.*2733C= ENSP00000498237.1:n.*2733C=
ENST00000652016.1:c.*867C= ENSP00000498267.1:n.*867C=
ENST00000652485.1:c.2683C=
ENST00000378823.7:c.2650C= ENSP00000368100.4:p.Arg884=
ENST00000423956.5:c.*836C= ENSP00000390971.1:n.*836C=
ENST00000533482.5:c.*2276C= ENSP00000431225.1:n.*2276C=
NM_005732.3:c.2650C= NP_005723.2:p.Arg884=
NM_005732.4:c.2650C= MANE Select NP_005723.2:p.Arg884=