gnomAD v4:
Joint Max Group AF
0.00001192 (SAS)
Exomes Max Group AF
0.00001483 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101854A>G , CM000673.2:g.8101854A>G | GRCh38 |
| NC_000011.9:g.8123401A>G , CM000673.1:g.8123401A>G | GRCh37 |
| NC_000011.8:g.8079977A>G | NCBI36 |
| NG_029912.1:g.68222A>G | |
| NG_030416.2:g.72190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.*235A>G (TUB) MANE Select | ENSP00000299506.3:n.*235A>G | |
| ENST00000299506.2:c.*235A>G (TUB) | ENSP00000299506.2:n.*235A>G | |
| ENST00000305253.8:c.*235A>G (TUB) | ENSP00000305426.4:n.*235A>G | |
| NM_003320.4:c.*235A>G (TUB) | NP_003311.2:n.*235A>G | |
| NM_177972.2:c.*235A>G (TUB) | NP_813977.1:n.*235A>G | |
| XM_005253109.2:c.*235A>G (TUB) | XP_005253166.1:n.*235A>G | |
| XM_011520344.1:c.*235A>G (TUB) | XP_011518646.1:n.*235A>G | |
| XR_428851.2:n.1484-7695T>C (RIC3) | ||
| XR_930896.1:n.1546+5481T>C (RIC3) | ||
| XR_930900.1:n.1547-4132T>C (RIC3) | ||
| NR_144485.1:n.1519+5481T>C (RIC3) | ||
| XM_005253109.3:c.*235A>G (TUB) | XP_005253166.1:n.*235A>G | |
| XM_011520344.2:c.*235A>G (TUB) | XP_011518646.1:n.*235A>G | |
| XR_001747957.2:n.1335-7695T>C (RIC3) | ||
| XR_428851.4:n.1422-7695T>C (RIC3) | ||
| XR_930896.3:n.1484+5481T>C (RIC3) | ||
| XR_930900.3:n.1485-4132T>C (RIC3) | ||
| NM_177972.3:c.*235A>G (TUB) MANE Select | NP_813977.1:n.*235A>G | |
| NR_144485.2:n.1450+5481T>C (RIC3) | ||
| NM_003320.5:c.*235A>G (TUB) | NP_003311.2:n.*235A>G |