Canonical Allele Identifier: CA1583229578
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609183C= , CM000667.2:g.132609183C= GRCh38
NC_000005.9:g.131944875C= , CM000667.1:g.131944875C= GRCh37
NC_000005.8:g.131972774C= NCBI36
NG_021151.1:g.57260C=
NG_021151.2:g.57207C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2896C= MANE Select ENSP00000368100.4:p.Gln966=
ENST00000638452.2:c.2599C= ENSP00000492349.2:p.Gln867=
ENST00000638504.1:n.2504C=
ENST00000638568.2:c.2599C= ENSP00000491158.2:p.Gln867=
ENST00000639899.1:n.3415C=
ENST00000640655.2:c.2599C= ENSP00000491596.2:p.Gln867=
ENST00000651160.1:c.*1040C= ENSP00000498829.1:n.*1040C=
ENST00000651723.1:c.*2979C= ENSP00000498237.1:n.*2979C=
ENST00000378823.7:c.2896C= ENSP00000368100.4:p.Gln966=
ENST00000423956.5:c.*1082C= ENSP00000390971.1:n.*1082C=
ENST00000533482.5:c.*2522C= ENSP00000431225.1:n.*2522C=
NM_005732.3:c.2896C= NP_005723.2:p.Gln966=
NM_005732.4:c.2896C= MANE Select NP_005723.2:p.Gln966=