Canonical Allele Identifier: CA1583240626
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132591966G= , CM000667.2:g.132591966G= GRCh38
NC_000005.9:g.131927658G= , CM000667.1:g.131927658G= GRCh37
NC_000005.8:g.131955557G= NCBI36
NG_021151.1:g.40043G=
NG_021151.2:g.39990G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1725G= MANE Select ENSP00000368100.4:p.Gln575=
ENST00000638452.2:c.1428G= ENSP00000492349.2:p.Gln476=
ENST00000638504.1:n.1411G=
ENST00000638568.2:c.1428G= ENSP00000491158.2:p.Gln476=
ENST00000639899.1:n.2244G=
ENST00000640655.2:c.1428G= ENSP00000491596.2:p.Gln476=
ENST00000651160.1:c.1725G= ENSP00000498829.1:p.Gln575=
ENST00000651541.1:c.1428G= ENSP00000498795.1:p.Gln476=
ENST00000651658.1:n.2152G=
ENST00000651723.1:c.*1808G= ENSP00000498237.1:n.*1808G=
ENST00000652016.1:c.1725G= ENSP00000498267.1:p.Gln575=
ENST00000652485.1:c.1758G= ENSP00000498973.1:p.Gln586=
ENST00000378823.7:c.1725G= ENSP00000368100.4:p.Gln575=
ENST00000423956.5:c.1635+560G= ENSP00000390971.1:n.1635+560G=
ENST00000434288.1:c.220G=
ENST00000453394.5:c.1542G= ENSP00000400049.1:p.Gln514=
ENST00000533482.5:c.*1351G= ENSP00000431225.1:n.*1351G=
NM_005732.3:c.1725G= NP_005723.2:p.Gln575=
NM_005732.4:c.1725G= MANE Select NP_005723.2:p.Gln575=