Revel Score:
ENST00000326317 (MANE Select)
0.636
ENST00000535808
0.636
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000306 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000204 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80220312A>G , CM000679.2:g.80220312A>G | GRCh38 |
| NC_000017.10:g.78194111A>G , CM000679.1:g.78194111A>G | GRCh37 |
| NC_000017.9:g.75808706A>G | NCBI36 |
| NG_008229.1:g.5089T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326317.11:c.2T>C (SGSH) MANE Select | ENSP00000314606.6:p.Met1Thr | |
| ENST00000326317.10:c.2T>C (SGSH) | ENSP00000314606.6:p.Met1Thr | |
| ENST00000570427.1:c.2T>C (SGSH) | ENSP00000459765.1:p.Met1Thr | |
| ENST00000570923.1:c.2T>C (SGSH) | ENSP00000458200.1:p.Met1Thr | |
| ENST00000571051.5:n.22T>C (SGSH) | ||
| ENST00000571075.1:n.22T>C (SGSH) | ||
| ENST00000571675.5:n.22T>C (SGSH) | ||
| ENST00000572208.5:n.20T>C (SGSH) | ||
| ENST00000573150.5:c.2T>C (SGSH) | ENSP00000459280.1:p.Met1Thr | |
| ENST00000575188.5:n.22T>C (SGSH) | ||
| ENST00000575282.5:n.11T>C (SGSH) | ||
| ENST00000576707.5:c.-174+570T>C (SGSH) | ENSP00000461128.1:n.-174+570T>C | |
| ENST00000576941.5:c.2T>C (SGSH) | ENSP00000461160.1:p.Met1Thr | |
| ENST00000577155.5:c.-14+324A>G (SLC26A11) | ENSP00000458521.1:n.-14+324A>G | |
| NM_000199.3:c.2T>C (SGSH) | NP_000190.1:p.Met1Thr | |
| XM_005257582.2:c.2T>C (SGSH) | XP_005257639.1:p.Met1Thr | |
| XM_005257583.3:c.2T>C (SGSH) | XP_005257640.1:p.Met1Thr | |
| XM_011525126.1:c.2T>C (SGSH) | XP_011523428.1:p.Met1Thr | |
| XM_011525127.1:c.2T>C (SGSH) | XP_011523429.1:p.Met1Thr | |
| XR_934532.1:n.22T>C (SGSH) | ||
| NM_000199.4:c.2T>C (SGSH) | NP_000190.1:p.Met1Thr | |
| NM_001352921.1:c.2T>C (SGSH) | NP_001339850.1:p.Met1Thr | |
| NM_001352922.1:c.2T>C (SGSH) | NP_001339851.1:p.Met1Thr | |
| NR_148201.1:n.89T>C (SGSH) | ||
| XM_005257583.4:c.2T>C (SGSH) | XP_005257640.1:p.Met1Thr | |
| XM_017024505.1:c.1A>G (SLC26A11) | XP_016879994.1:p.Met1Val | |
| XM_017024506.1:c.1A>G (SLC26A11) | XP_016879995.1:p.Met1Val | |
| XM_017024952.1:c.2T>C (SGSH) | XP_016880441.1:p.Met1Thr | |
| XR_001752498.1:n.26A>G (SLC26A11) | ||
| XR_001752499.1:n.26A>G (SLC26A11) | ||
| XR_001752585.1:n.22T>C (SGSH) | ||
| XR_001752586.1:n.22T>C (SGSH) | ||
| XR_001752587.1:n.22T>C (SGSH) | ||
| XR_001752588.1:n.22T>C (SGSH) | ||
| XR_001752589.1:n.22T>C (SGSH) | ||
| XR_001752590.1:n.22T>C (SGSH) | ||
| XR_001752591.1:n.22T>C (SGSH) | ||
| XR_001752592.1:n.22T>C (SGSH) | ||
| XR_002958057.1:n.22T>C (SGSH) | ||
| XR_934532.2:n.22T>C (SGSH) | ||
| NM_000199.5:c.2T>C (SGSH) MANE Select | NP_000190.1:p.Met1Thr | |
| NM_001352921.2:c.2T>C (SGSH) | NP_001339850.1:p.Met1Thr | |
| NM_001352922.2:c.2T>C (SGSH) | NP_001339851.1:p.Met1Thr | |
| NR_148201.2:n.22T>C (SGSH) | ||
| NM_001352921.3:c.2T>C (SGSH) | NP_001339850.1:p.Met1Thr |