Canonical Allele Identifier: CA1583241840
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594959G= , CM000667.2:g.132594959G= GRCh38
NC_000005.9:g.131930651G= , CM000667.1:g.131930651G= GRCh37
NC_000005.8:g.131958550G= NCBI36
NG_021151.1:g.43036G=
NG_021151.2:g.42983G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1884G= MANE Select ENSP00000368100.4:p.Lys628=
ENST00000638452.2:c.1587G= ENSP00000492349.2:p.Lys529=
ENST00000638504.1:n.1480-145G=
ENST00000638568.2:c.1587G= ENSP00000491158.2:p.Lys529=
ENST00000639899.1:n.2403G=
ENST00000640655.2:c.1587G= ENSP00000491596.2:p.Lys529=
ENST00000651160.1:c.*16-145G= ENSP00000498829.1:n.*16-145G=
ENST00000651658.1:n.2427G=
ENST00000651723.1:c.*1967G= ENSP00000498237.1:n.*1967G=
ENST00000652016.1:c.*89-145G= ENSP00000498267.1:n.*89-145G=
ENST00000652485.1:c.1917G= ENSP00000498973.1:p.Lys639=
ENST00000378823.7:c.1884G= ENSP00000368100.4:p.Lys628=
ENST00000423956.5:c.*70G= ENSP00000390971.1:n.*70G=
ENST00000453394.5:c.1701G= ENSP00000400049.1:p.Lys567=
ENST00000533482.5:c.*1510G= ENSP00000431225.1:n.*1510G=
NM_005732.3:c.1884G= NP_005723.2:p.Lys628=
NM_005732.4:c.1884G= MANE Select NP_005723.2:p.Lys628=