Canonical Allele Identifier: CA1583252327
Community Standard Title: NM_005732.4(RAD50):c.3454C= (p.Arg1152=)
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637179C= , CM000667.2:g.132637179C= GRCh38
NC_000005.9:g.131972871C= , CM000667.1:g.131972871C= GRCh37
NC_000005.8:g.132000770C= NCBI36
NG_021151.1:g.85256C=
NG_021151.2:g.85203C=

Transcript Alleles

HGVS Amino-acid Change
NM_005732.4:c.3454C= (RAD50) MANE Select NP_005723.2:p.Arg1152=
ENST00000378823.8:c.3454C= (RAD50) MANE Select ENSP00000368100.4:p.Arg1152=
NM_005732.3:c.3454C= (RAD50) NP_005723.2:p.Arg1152=
NR_132124.1:n.153+979G= (TH2LCRR)
ENST00000378823.7:c.3454C= (RAD50) ENSP00000368100.4:p.Arg1152=
ENST00000455677.1:c.89C= (RAD50)
ENST00000533482.5:c.*3080C= (RAD50) ENSP00000431225.1:n.*3080C=
ENST00000638452.2:c.3157C= ENSP00000492349.2:p.Arg1053=
ENST00000638504.1:n.3062C=
ENST00000638568.2:c.3157C= ENSP00000491158.2:p.Arg1053=
ENST00000639899.1:n.3973C=
ENST00000640655.2:c.3157C= ENSP00000491596.2:p.Arg1053=
ENST00000651249.1:c.290C= (RAD50)