Canonical Allele Identifier: CA650290547
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132641286G>A , CM000667.2:g.132641286G>A GRCh38
NC_000005.9:g.131976978G>A , CM000667.1:g.131976978G>A GRCh37
NC_000005.8:g.132004877G>A NCBI36
NG_021151.1:g.89363G>A
NG_021151.2:g.89310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3752+481G>A (RAD50) MANE Select ENSP00000368100.4:n.3752+481G>A
ENST00000638452.2:c.3455+481G>A ENSP00000492349.2:n.3455+481G>A
ENST00000638504.1:n.3360+481G>A
ENST00000638568.2:c.3455+481G>A ENSP00000491158.2:n.3455+481G>A
ENST00000639899.1:n.4271+481G>A
ENST00000640655.2:c.3455+481G>A ENSP00000491596.2:n.3455+481G>A
ENST00000651249.1:c.588+481G>A (RAD50)
ENST00000378823.7:c.3752+481G>A (RAD50) ENSP00000368100.4:n.3752+481G>A
ENST00000455677.1:c.387+481G>A (RAD50)
ENST00000533482.5:c.*3378+481G>A (RAD50) ENSP00000431225.1:n.*3378+481G>A
NM_005732.3:c.3752+481G>A (RAD50) NP_005723.2:n.3752+481G>A
NR_132124.1:n.45+460C>T (TH2LCRR)
NR_132125.1:n.189+912C>T (TH2LCRR)
NR_132126.1:n.175-3021C>T (TH2LCRR)
XR_427771.1:n.426+460C>T (TH2LCRR)
NM_005732.4:c.3752+481G>A (RAD50) MANE Select NP_005723.2:n.3752+481G>A