Canonical Allele Identifier: CA1583246314
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604907C= , CM000667.2:g.132604907C= GRCh38
NC_000005.9:g.131940599C= , CM000667.1:g.131940599C= GRCh37
NC_000005.8:g.131968498C= NCBI36
NG_021151.1:g.52984C=
NG_021151.2:g.52931C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2626C= MANE Select ENSP00000368100.4:p.Gln876=
ENST00000638452.2:c.2329C= ENSP00000492349.2:p.Gln777=
ENST00000638504.1:n.2234C=
ENST00000638568.2:c.2329C= ENSP00000491158.2:p.Gln777=
ENST00000639899.1:n.3145C=
ENST00000640655.2:c.2329C= ENSP00000491596.2:p.Gln777=
ENST00000651160.1:c.*770C= ENSP00000498829.1:n.*770C=
ENST00000651723.1:c.*2709C= ENSP00000498237.1:n.*2709C=
ENST00000652016.1:c.*843C= ENSP00000498267.1:n.*843C=
ENST00000652485.1:c.2659C= ENSP00000498973.1:p.Gln887=
ENST00000378823.7:c.2626C= ENSP00000368100.4:p.Gln876=
ENST00000423956.5:c.*812C= ENSP00000390971.1:n.*812C=
ENST00000533482.5:c.*2252C= ENSP00000431225.1:n.*2252C=
NM_005732.3:c.2626C= NP_005723.2:p.Gln876=
NM_005732.4:c.2626C= MANE Select NP_005723.2:p.Gln876=