Canonical Allele Identifier: CA1583241838
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594956C= , CM000667.2:g.132594956C= GRCh38
NC_000005.9:g.131930648C= , CM000667.1:g.131930648C= GRCh37
NC_000005.8:g.131958547C= NCBI36
NG_021151.1:g.43033C=
NG_021151.2:g.42980C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1881C= MANE Select ENSP00000368100.4:p.Asp627=
ENST00000638452.2:c.1584C= ENSP00000492349.2:p.Asp528=
ENST00000638504.1:n.1480-148C=
ENST00000638568.2:c.1584C= ENSP00000491158.2:p.Asp528=
ENST00000639899.1:n.2400C=
ENST00000640655.2:c.1584C= ENSP00000491596.2:p.Asp528=
ENST00000651160.1:c.*16-148C= ENSP00000498829.1:n.*16-148C=
ENST00000651658.1:n.2424C=
ENST00000651723.1:c.*1964C= ENSP00000498237.1:n.*1964C=
ENST00000652016.1:c.*89-148C= ENSP00000498267.1:n.*89-148C=
ENST00000652485.1:c.1914C= ENSP00000498973.1:p.Asp638=
ENST00000378823.7:c.1881C= ENSP00000368100.4:p.Asp627=
ENST00000423956.5:c.*67C= ENSP00000390971.1:n.*67C=
ENST00000453394.5:c.1698C= ENSP00000400049.1:p.Asp566=
ENST00000533482.5:c.*1507C= ENSP00000431225.1:n.*1507C=
NM_005732.3:c.1881C= NP_005723.2:p.Asp627=
NM_005732.4:c.1881C= MANE Select NP_005723.2:p.Asp627=