Canonical Allele Identifier: CA1583241811
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594912A= , CM000667.2:g.132594912A= GRCh38
NC_000005.9:g.131930604A= , CM000667.1:g.131930604A= GRCh37
NC_000005.8:g.131958503A= NCBI36
NG_021151.1:g.42989A=
NG_021151.2:g.42936A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1837A= MANE Select ENSP00000368100.4:p.Asn613=
ENST00000638452.2:c.1540A= ENSP00000492349.2:p.Asn514=
ENST00000638504.1:n.1480-192A=
ENST00000638568.2:c.1540A= ENSP00000491158.2:p.Asn514=
ENST00000639899.1:n.2356A=
ENST00000640655.2:c.1540A= ENSP00000491596.2:p.Asn514=
ENST00000651160.1:c.*16-192A= ENSP00000498829.1:n.*16-192A=
ENST00000651658.1:n.2380A=
ENST00000651723.1:c.*1920A= ENSP00000498237.1:n.*1920A=
ENST00000652016.1:c.*89-192A= ENSP00000498267.1:n.*89-192A=
ENST00000652485.1:c.1870A= ENSP00000498973.1:p.Asn624=
ENST00000378823.7:c.1837A= ENSP00000368100.4:p.Asn613=
ENST00000423956.5:c.*23A= ENSP00000390971.1:n.*23A=
ENST00000453394.5:c.1654A= ENSP00000400049.1:p.Asn552=
ENST00000533482.5:c.*1463A= ENSP00000431225.1:n.*1463A=
NM_005732.3:c.1837A= NP_005723.2:p.Asn613=
NM_005732.4:c.1837A= MANE Select NP_005723.2:p.Asn613=