Canonical Allele Identifier: CA1583245901
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604022G= , CM000667.2:g.132604022G= GRCh38
NC_000005.9:g.131939714G= , CM000667.1:g.131939714G= GRCh37
NC_000005.8:g.131967613G= NCBI36
NG_021151.1:g.52099G=
NG_021151.2:g.52046G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2500G= MANE Select ENSP00000368100.4:p.Glu834=
ENST00000638452.2:c.2203G= ENSP00000492349.2:p.Glu735=
ENST00000638504.1:n.2108G=
ENST00000638568.2:c.2203G= ENSP00000491158.2:p.Glu735=
ENST00000639899.1:n.3019G=
ENST00000640655.2:c.2203G= ENSP00000491596.2:p.Glu735=
ENST00000651160.1:c.*644G= ENSP00000498829.1:n.*644G=
ENST00000651658.1:n.3043G=
ENST00000651723.1:c.*2583G= ENSP00000498237.1:n.*2583G=
ENST00000652016.1:c.*717G= ENSP00000498267.1:n.*717G=
ENST00000652485.1:c.2533G= ENSP00000498973.1:p.Glu845=
ENST00000378823.7:c.2500G= ENSP00000368100.4:p.Glu834=
ENST00000423956.5:c.*686G= ENSP00000390971.1:n.*686G=
ENST00000533482.5:c.*2126G= ENSP00000431225.1:n.*2126G=
NM_005732.3:c.2500G= NP_005723.2:p.Glu834=
NM_005732.4:c.2500G= MANE Select NP_005723.2:p.Glu834=