Canonical Allele Identifier: CA1583241854
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594984G= , CM000667.2:g.132594984G= GRCh38
NC_000005.9:g.131930676G= , CM000667.1:g.131930676G= GRCh37
NC_000005.8:g.131958575G= NCBI36
NG_021151.1:g.43061G=
NG_021151.2:g.43008G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1909G= MANE Select ENSP00000368100.4:p.Asp637=
ENST00000638452.2:c.1612G= ENSP00000492349.2:p.Asp538=
ENST00000638504.1:n.1480-120G=
ENST00000638568.2:c.1612G= ENSP00000491158.2:p.Asp538=
ENST00000639899.1:n.2428G=
ENST00000640655.2:c.1612G= ENSP00000491596.2:p.Asp538=
ENST00000651160.1:c.*16-120G= ENSP00000498829.1:n.*16-120G=
ENST00000651658.1:n.2452G=
ENST00000651723.1:c.*1992G= ENSP00000498237.1:n.*1992G=
ENST00000652016.1:c.*89-120G= ENSP00000498267.1:n.*89-120G=
ENST00000652485.1:c.1942G= ENSP00000498973.1:p.Asp648=
ENST00000378823.7:c.1909G= ENSP00000368100.4:p.Asp637=
ENST00000423956.5:c.*95G= ENSP00000390971.1:n.*95G=
ENST00000453394.5:c.1726G= ENSP00000400049.1:p.Asp576=
ENST00000533482.5:c.*1535G= ENSP00000431225.1:n.*1535G=
NM_005732.3:c.1909G= NP_005723.2:p.Asp637=
NM_005732.4:c.1909G= MANE Select NP_005723.2:p.Asp637=