Canonical Allele Identifier: CA1583245853
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132603931A= , CM000667.2:g.132603931A= GRCh38
NC_000005.9:g.131939623A= , CM000667.1:g.131939623A= GRCh37
NC_000005.8:g.131967522A= NCBI36
NG_021151.1:g.52008A=
NG_021151.2:g.51955A=

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2409A= MANE Select ENSP00000368100.4:p.Lys803=
ENST00000638452.2:c.2112A= ENSP00000492349.2:p.Lys704=
ENST00000638504.1:n.2017A=
ENST00000638568.2:c.2112A= ENSP00000491158.2:p.Lys704=
ENST00000639899.1:n.2928A=
ENST00000640655.2:c.2112A= ENSP00000491596.2:p.Lys704=
ENST00000651160.1:c.*553A= ENSP00000498829.1:n.*553A=
ENST00000651658.1:n.2952A=
ENST00000651723.1:c.*2492A= ENSP00000498237.1:n.*2492A=
ENST00000652016.1:c.*626A= ENSP00000498267.1:n.*626A=
ENST00000652485.1:c.2442A= ENSP00000498973.1:p.Lys814=
ENST00000378823.7:c.2409A= ENSP00000368100.4:p.Lys803=
ENST00000423956.5:c.*595A= ENSP00000390971.1:n.*595A=
ENST00000533482.5:c.*2035A= ENSP00000431225.1:n.*2035A=
NM_005732.3:c.2409A= NP_005723.2:p.Lys803=
NM_005732.4:c.2409A= MANE Select NP_005723.2:p.Lys803=