Canonical Allele Identifier: CA1583254566
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642183T= , CM000667.2:g.132642183T= GRCh38
NC_000005.9:g.131977875T= , CM000667.1:g.131977875T= GRCh37
NC_000005.8:g.132005774T= NCBI36
NG_021151.1:g.90260T=
NG_021151.2:g.90207T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3758T= (RAD50) MANE Select ENSP00000368100.4:p.Ile1253=
ENST00000638452.2:c.3461T= ENSP00000492349.2:p.Ile1154=
ENST00000638504.1:n.3366T=
ENST00000638568.2:c.3461T= ENSP00000491158.2:p.Ile1154=
ENST00000639899.1:n.4277T=
ENST00000640655.2:c.3461T= ENSP00000491596.2:p.Ile1154=
ENST00000651249.1:c.594T= (RAD50)
ENST00000378823.7:c.3758T= (RAD50) ENSP00000368100.4:p.Ile1253=
ENST00000455677.1:c.388-822T= (RAD50)
ENST00000533482.5:c.*3384T= (RAD50) ENSP00000431225.1:n.*3384T=
NM_005732.3:c.3758T= (RAD50) NP_005723.2:p.Ile1253=
NR_132125.1:n.189+15A= (TH2LCRR)
NR_132126.1:n.175-3918A= (TH2LCRR)
NM_005732.4:c.3758T= (RAD50) MANE Select NP_005723.2:p.Ile1253=