gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45110667 (NFE)
Genomes Max Group AF
0.45110667 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117956431T>G , CM000663.2:g.117956431T>G | GRCh38 |
| NC_000001.10:g.118499054T>G , CM000663.1:g.118499054T>G | GRCh37 |
| NC_000001.9:g.118300577T>G | NCBI36 |
| NG_053041.1:g.233795A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336338.10:c.*1-2382A>C (SPAG17) MANE Select | ENSP00000337804.5:n.*1-2382A>C | |
| ENST00000349139.6:c.2454-637T>G (WDR3) MANE Select | ENSP00000308179.4:n.2454-637T>G | |
| ENST00000336338.9:c.*1-2382A>C (SPAG17) | ENSP00000337804.5:n.*1-2382A>C | |
| ENST00000349139.5:c.2454-637T>G (WDR3) | ENSP00000308179.4:n.2454-637T>G | |
| ENST00000466857.5:n.255-2382A>C (SPAG17) | ||
| ENST00000469128.1:n.422-2382A>C (SPAG17) | ||
| ENST00000478697.5:n.285-1201A>C (SPAG17) | ||
| NM_006784.2:c.2454-637T>G (WDR3) | NP_006775.1:n.2454-637T>G | |
| NM_206996.2:c.*1-2382A>C (SPAG17) | NP_996879.1:n.*1-2382A>C | |
| XM_006710426.2:c.*1-2382A>C (SPAG17) | XP_006710489.1:n.*1-2382A>C | |
| XM_006710427.2:c.*1-2382A>C (SPAG17) | XP_006710490.1:n.*1-2382A>C | |
| XM_006710428.2:c.*1-2382A>C (SPAG17) | XP_006710491.1:n.*1-2382A>C | |
| XM_006710429.2:c.*1-2382A>C (SPAG17) | XP_006710492.1:n.*1-2382A>C | |
| XM_006710431.2:c.*1-2382A>C (SPAG17) | XP_006710494.1:n.*1-2382A>C | |
| XM_011540934.1:c.*1-2382A>C (SPAG17) | XP_011539236.1:n.*1-2382A>C | |
| XM_011540935.1:c.*1-2382A>C (SPAG17) | XP_011539237.1:n.*1-2382A>C | |
| XM_011540936.1:c.*1-2382A>C (SPAG17) | XP_011539238.1:n.*1-2382A>C | |
| XM_011540937.1:c.*1-2382A>C (SPAG17) | XP_011539239.1:n.*1-2382A>C | |
| XM_011540939.1:c.*1-2382A>C (SPAG17) | XP_011539241.1:n.*1-2382A>C | |
| XM_011540940.1:c.*1-2382A>C (SPAG17) | XP_011539242.1:n.*1-2382A>C | |
| XM_011540941.1:c.*1-2382A>C (SPAG17) | XP_011539243.1:n.*1-2382A>C | |
| XM_011540942.1:c.*1-2382A>C (SPAG17) | XP_011539244.1:n.*1-2382A>C | |
| XR_946574.1:n.6741-1201A>C (SPAG17) | ||
| NM_206996.3:c.*1-2382A>C (SPAG17) | NP_996879.1:n.*1-2382A>C | |
| XM_006710426.3:c.*1-2382A>C (SPAG17) | XP_006710489.1:n.*1-2382A>C | |
| XM_006710427.3:c.*1-2382A>C (SPAG17) | XP_006710490.1:n.*1-2382A>C | |
| XM_006710428.3:c.*1-2382A>C (SPAG17) | XP_006710491.1:n.*1-2382A>C | |
| XM_006710429.3:c.*1-2382A>C (SPAG17) | XP_006710492.1:n.*1-2382A>C | |
| XM_006710431.3:c.*1-2382A>C (SPAG17) | XP_006710494.1:n.*1-2382A>C | |
| XM_011540935.2:c.*1-2382A>C (SPAG17) | XP_011539237.1:n.*1-2382A>C | |
| XM_011540936.2:c.*1-2382A>C (SPAG17) | XP_011539238.1:n.*1-2382A>C | |
| XM_011540937.2:c.*1-2382A>C (SPAG17) | XP_011539239.1:n.*1-2382A>C | |
| XM_011540939.2:c.*1-2382A>C (SPAG17) | XP_011539241.1:n.*1-2382A>C | |
| XM_011540941.2:c.*1-2382A>C (SPAG17) | XP_011539243.1:n.*1-2382A>C | |
| XM_011540942.2:c.*1-2382A>C (SPAG17) | XP_011539244.1:n.*1-2382A>C | |
| NM_006784.3:c.2454-637T>G (WDR3) MANE Select | NP_006775.1:n.2454-637T>G | |
| NM_206996.4:c.*1-2382A>C (SPAG17) MANE Select | NP_996879.1:n.*1-2382A>C |