gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00088423 (EAS)
Genomes Max Group AF
0.00015706 (EAS)
Exomes Max Group AF
0.0009425 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80220218G>A , CM000679.2:g.80220218G>A | GRCh38 |
| NC_000017.10:g.78194017G>A , CM000679.1:g.78194017G>A | GRCh37 |
| NC_000017.9:g.75808612G>A | NCBI36 |
| NG_008229.1:g.5183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326317.11:c.88+8C>T (SGSH) MANE Select | ENSP00000314606.6:n.88+8C>T | |
| ENST00000326317.10:c.88+8C>T (SGSH) | ENSP00000314606.6:n.88+8C>T | |
| ENST00000570427.1:c.88+8C>T (SGSH) | ENSP00000459765.1:n.88+8C>T | |
| ENST00000570923.1:c.88+8C>T (SGSH) | ENSP00000458200.1:n.88+8C>T | |
| ENST00000571051.5:n.108+8C>T (SGSH) | ||
| ENST00000571075.1:n.108+8C>T (SGSH) | ||
| ENST00000571675.5:n.108+8C>T (SGSH) | ||
| ENST00000572208.5:n.106+8C>T (SGSH) | ||
| ENST00000573150.5:c.88+8C>T (SGSH) | ENSP00000459280.1:n.88+8C>T | |
| ENST00000574505.5:c.33+8C>T (SGSH) | ||
| ENST00000575188.5:n.108+8C>T (SGSH) | ||
| ENST00000575282.5:n.97+8C>T (SGSH) | ||
| ENST00000576707.5:c.-174+664C>T (SGSH) | ENSP00000461128.1:n.-174+664C>T | |
| ENST00000576941.5:c.88+8C>T (SGSH) | ENSP00000461160.1:n.88+8C>T | |
| ENST00000577155.5:c.-14+230G>A (SLC26A11) | ENSP00000458521.1:n.-14+230G>A | |
| NM_000199.3:c.88+8C>T (SGSH) | NP_000190.1:n.88+8C>T | |
| XM_005257582.2:c.88+8C>T (SGSH) | XP_005257639.1:n.88+8C>T | |
| XM_005257583.3:c.88+8C>T (SGSH) | XP_005257640.1:n.88+8C>T | |
| XM_011525126.1:c.88+8C>T (SGSH) | XP_011523428.1:n.88+8C>T | |
| XM_011525127.1:c.88+8C>T (SGSH) | XP_011523429.1:n.88+8C>T | |
| XR_934532.1:n.108+8C>T (SGSH) | ||
| NM_000199.4:c.88+8C>T (SGSH) | NP_000190.1:n.88+8C>T | |
| NM_001352921.1:c.88+8C>T (SGSH) | NP_001339850.1:n.88+8C>T | |
| NM_001352922.1:c.88+8C>T (SGSH) | NP_001339851.1:n.88+8C>T | |
| NR_148201.1:n.175+8C>T (SGSH) | ||
| XM_005257583.4:c.88+8C>T (SGSH) | XP_005257640.1:n.88+8C>T | |
| XM_017024952.1:c.88+8C>T (SGSH) | XP_016880441.1:n.88+8C>T | |
| XR_001752585.1:n.108+8C>T (SGSH) | ||
| XR_001752586.1:n.108+8C>T (SGSH) | ||
| XR_001752587.1:n.108+8C>T (SGSH) | ||
| XR_001752588.1:n.108+8C>T (SGSH) | ||
| XR_001752589.1:n.108+8C>T (SGSH) | ||
| XR_001752590.1:n.108+8C>T (SGSH) | ||
| XR_001752591.1:n.108+8C>T (SGSH) | ||
| XR_001752592.1:n.108+8C>T (SGSH) | ||
| XR_002958057.1:n.108+8C>T (SGSH) | ||
| XR_934532.2:n.108+8C>T (SGSH) | ||
| NM_000199.5:c.88+8C>T (SGSH) MANE Select | NP_000190.1:n.88+8C>T | |
| NM_001352921.2:c.88+8C>T (SGSH) | NP_001339850.1:n.88+8C>T | |
| NM_001352922.2:c.88+8C>T (SGSH) | NP_001339851.1:n.88+8C>T | |
| NR_148201.2:n.108+8C>T (SGSH) | ||
| NM_001352921.3:c.88+8C>T (SGSH) | NP_001339850.1:n.88+8C>T |