This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00503955 (NFE)
Genomes Max Group AF
0.00406929 (NFE)
Exomes Max Group AF
0.00507637 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642304C>T , CM000667.2:g.132642304C>T | GRCh38 |
| NC_000005.9:g.131977996C>T , CM000667.1:g.131977996C>T | GRCh37 |
| NC_000005.8:g.132005895C>T | NCBI36 |
| NG_021151.1:g.90381C>T | |
| NG_021151.2:g.90328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3879C>T (RAD50) MANE Select | ENSP00000368100.4:p.Ile1293= | |
| ENST00000638452.2:c.3582C>T | ENSP00000492349.2:p.Ile1194= | |
| ENST00000638504.1:n.3487C>T | ||
| ENST00000638568.2:c.3582C>T | ENSP00000491158.2:p.Ile1194= | |
| ENST00000639899.1:n.4398C>T | ||
| ENST00000640655.2:c.3582C>T | ENSP00000491596.2:p.Ile1194= | |
| ENST00000651249.1:c.715C>T (RAD50) | ||
| ENST00000378823.7:c.3879C>T (RAD50) | ENSP00000368100.4:p.Ile1293= | |
| ENST00000455677.1:c.388-701C>T (RAD50) | ||
| ENST00000533482.5:c.*3505C>T (RAD50) | ENSP00000431225.1:n.*3505C>T | |
| NM_005732.3:c.3879C>T (RAD50) | NP_005723.2:p.Ile1293= | |
| NR_132125.1:n.105-22G>A (TH2LCRR) | ||
| NR_132126.1:n.175-4039G>A (TH2LCRR) | ||
| NM_005732.4:c.3879C>T (RAD50) MANE Select | NP_005723.2:p.Ile1293= |