Canonical Allele Identifier: CA1583216978
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557376G= , CM000667.2:g.132557376G= GRCh38
NC_000005.9:g.131893068G= , CM000667.1:g.131893068G= GRCh37
NC_000005.8:g.131920967G= NCBI36
NG_021151.1:g.5453G=
NG_021151.2:g.5400G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.52G= MANE Select ENSP00000368100.4:p.Glu18=
ENST00000638452.2:c.-168-1908G= ENSP00000492349.2:n.-168-1908G=
ENST00000638504.1:n.207-1908G=
ENST00000638568.2:c.-169+903G= ENSP00000491158.2:n.-169+903G=
ENST00000639899.1:n.290-1908G=
ENST00000640655.2:c.-168-1908G= ENSP00000491596.2:n.-168-1908G=
ENST00000651160.1:c.52G= ENSP00000498829.1:p.Glu18=
ENST00000651541.1:c.-169+367G= ENSP00000498795.1:n.-169+367G=
ENST00000651658.1:n.120G=
ENST00000651723.1:c.52G= ENSP00000498237.1:p.Glu18=
ENST00000652016.1:c.52G= ENSP00000498267.1:p.Glu18=
ENST00000652485.1:c.52G= ENSP00000498973.1:p.Glu18=
ENST00000378823.7:c.52G= ENSP00000368100.4:p.Glu18=
ENST00000416135.5:c.-169+903G= ENSP00000389515.1:n.-169+903G=
ENST00000423956.5:c.52G= ENSP00000390971.1:p.Glu18=
ENST00000453394.5:c.52G= ENSP00000400049.1:p.Glu18=
ENST00000533482.5:c.52G= ENSP00000431225.1:p.Glu18=
NM_005732.3:c.52G= NP_005723.2:p.Glu18=
NM_005732.4:c.52G= MANE Select NP_005723.2:p.Glu18=