Canonical Allele Identifier: CA1583252435
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637389C= , CM000667.2:g.132637389C= GRCh38
NC_000005.9:g.131973081C= , CM000667.1:g.131973081C= GRCh37
NC_000005.8:g.132000980C= NCBI36
NG_021151.1:g.85466C=
NG_021151.2:g.85413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+189C= (RAD50) MANE Select ENSP00000368100.4:n.3475+189C=
ENST00000638452.2:c.3178+189C= ENSP00000492349.2:n.3178+189C=
ENST00000638504.1:n.3083+189C=
ENST00000638568.2:c.3178+189C= ENSP00000491158.2:n.3178+189C=
ENST00000639899.1:n.3994+189C=
ENST00000640655.2:c.3178+189C= ENSP00000491596.2:n.3178+189C=
ENST00000651249.1:c.311+189C= (RAD50)
ENST00000378823.7:c.3475+189C= (RAD50) ENSP00000368100.4:n.3475+189C=
ENST00000455677.1:c.110+189C= (RAD50)
ENST00000533482.5:c.*3101+189C= (RAD50) ENSP00000431225.1:n.*3101+189C=
NM_005732.3:c.3475+189C= (RAD50) NP_005723.2:n.3475+189C=
NR_132124.1:n.153+769G= (TH2LCRR)
NM_005732.4:c.3475+189C= (RAD50) MANE Select NP_005723.2:n.3475+189C=