Canonical Allele Identifier: CA1583246342
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604959A= , CM000667.2:g.132604959A= GRCh38
NC_000005.9:g.131940651A= , CM000667.1:g.131940651A= GRCh37
NC_000005.8:g.131968550A= NCBI36
NG_021151.1:g.53036A=
NG_021151.2:g.52983A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2678A= MANE Select ENSP00000368100.4:p.Glu893=
ENST00000638452.2:c.2381A= ENSP00000492349.2:p.Glu794=
ENST00000638504.1:n.2286A=
ENST00000638568.2:c.2381A= ENSP00000491158.2:p.Glu794=
ENST00000639899.1:n.3197A=
ENST00000640655.2:c.2381A= ENSP00000491596.2:p.Glu794=
ENST00000651160.1:c.*822A= ENSP00000498829.1:n.*822A=
ENST00000651723.1:c.*2761A= ENSP00000498237.1:n.*2761A=
ENST00000652016.1:c.*895A= ENSP00000498267.1:n.*895A=
ENST00000378823.7:c.2678A= ENSP00000368100.4:p.Glu893=
ENST00000423956.5:c.*864A= ENSP00000390971.1:n.*864A=
ENST00000533482.5:c.*2304A= ENSP00000431225.1:n.*2304A=
NM_005732.3:c.2678A= NP_005723.2:p.Glu893=
NM_005732.4:c.2678A= MANE Select NP_005723.2:p.Glu893=