Canonical Allele Identifier: CA1583229704
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609391C= , CM000667.2:g.132609391C= GRCh38
NC_000005.9:g.131945083C= , CM000667.1:g.131945083C= GRCh37
NC_000005.8:g.131972982C= NCBI36
NG_021151.1:g.57468C=
NG_021151.2:g.57415C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3031C= MANE Select ENSP00000368100.4:p.Gln1011=
ENST00000638452.2:c.2734C= ENSP00000492349.2:p.Gln912=
ENST00000638504.1:n.2639C=
ENST00000638568.2:c.2734C= ENSP00000491158.2:p.Gln912=
ENST00000639899.1:n.3550C=
ENST00000640655.2:c.2734C= ENSP00000491596.2:p.Gln912=
ENST00000651723.1:c.*3114C= ENSP00000498237.1:n.*3114C=
ENST00000378823.7:c.3031C= ENSP00000368100.4:p.Gln1011=
ENST00000533482.5:c.*2657C= ENSP00000431225.1:n.*2657C=
NM_005732.3:c.3031C= NP_005723.2:p.Gln1011=
NM_005732.4:c.3031C= MANE Select NP_005723.2:p.Gln1011=