Canonical Allele Identifier: CA1583254630
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642277G= , CM000667.2:g.132642277G= GRCh38
NC_000005.9:g.131977969G= , CM000667.1:g.131977969G= GRCh37
NC_000005.8:g.132005868G= NCBI36
NG_021151.1:g.90354G=
NG_021151.2:g.90301G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3852G= (RAD50) MANE Select ENSP00000368100.4:p.Glu1284=
ENST00000638452.2:c.3555G= ENSP00000492349.2:p.Glu1185=
ENST00000638504.1:n.3460G=
ENST00000638568.2:c.3555G= ENSP00000491158.2:p.Glu1185=
ENST00000639899.1:n.4371G=
ENST00000640655.2:c.3555G= ENSP00000491596.2:p.Glu1185=
ENST00000651249.1:c.688G= (RAD50)
ENST00000378823.7:c.3852G= (RAD50) ENSP00000368100.4:p.Glu1284=
ENST00000455677.1:c.388-728G= (RAD50)
ENST00000533482.5:c.*3478G= (RAD50) ENSP00000431225.1:n.*3478G=
NM_005732.3:c.3852G= (RAD50) NP_005723.2:p.Glu1284=
NR_132125.1:n.110C= (TH2LCRR)
NR_132126.1:n.175-4012C= (TH2LCRR)
NM_005732.4:c.3852G= (RAD50) MANE Select NP_005723.2:p.Glu1284=