Canonical Allele Identifier: CA1583233592
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618100C= , CM000667.2:g.132618100C= GRCh38
NC_000005.9:g.131953792C= , CM000667.1:g.131953792C= GRCh37
NC_000005.8:g.131981691C= NCBI36
NG_021151.1:g.66177C=
NG_021151.2:g.66124C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3195C= MANE Select ENSP00000368100.4:p.Asp1065=
ENST00000638452.2:c.2898C= ENSP00000492349.2:p.Asp966=
ENST00000638504.1:n.2803C=
ENST00000638568.2:c.2898C= ENSP00000491158.2:p.Asp966=
ENST00000639899.1:n.3714C=
ENST00000640655.2:c.2898C= ENSP00000491596.2:p.Asp966=
ENST00000651249.1:c.31C=
ENST00000378823.7:c.3195C= ENSP00000368100.4:p.Asp1065=
ENST00000533482.5:c.*2821C= ENSP00000431225.1:n.*2821C=
NM_005732.3:c.3195C= NP_005723.2:p.Asp1065=
NM_005732.4:c.3195C= MANE Select NP_005723.2:p.Asp1065=