Canonical Allele Identifier: CA1583254563
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642178G= , CM000667.2:g.132642178G= GRCh38
NC_000005.9:g.131977870G= , CM000667.1:g.131977870G= GRCh37
NC_000005.8:g.132005769G= NCBI36
NG_021151.1:g.90255G=
NG_021151.2:g.90202G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3753G= (RAD50) MANE Select ENSP00000368100.4:p.Glu1251=
ENST00000638452.2:c.3456G= ENSP00000492349.2:p.Glu1152=
ENST00000638504.1:n.3361G=
ENST00000638568.2:c.3456G= ENSP00000491158.2:p.Glu1152=
ENST00000639899.1:n.4272G=
ENST00000640655.2:c.3456G= ENSP00000491596.2:p.Glu1152=
ENST00000651249.1:c.589G= (RAD50)
ENST00000378823.7:c.3753G= (RAD50) ENSP00000368100.4:p.Glu1251=
ENST00000455677.1:c.388-827G= (RAD50)
ENST00000533482.5:c.*3379G= (RAD50) ENSP00000431225.1:n.*3379G=
NM_005732.3:c.3753G= (RAD50) NP_005723.2:p.Glu1251=
NR_132125.1:n.189+20C= (TH2LCRR)
NR_132126.1:n.175-3913C= (TH2LCRR)
NM_005732.4:c.3753G= (RAD50) MANE Select NP_005723.2:p.Glu1251=