Linked Data
ClinVar Variation Id:
195039
dbSNP Id:
rs794727239
gnomAD v2:
4-981683-A-C
gnomAD v3:
4-987895-A-C
gnomAD v4:
4-987895-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987895A>C , CM000666.2:g.987895A>C | GRCh38 |
| NC_000004.11:g.981683A>C , CM000666.1:g.981683A>C | GRCh37 |
| NC_000004.10:g.971683A>C | NCBI36 |
| NG_008103.1:g.5899A>C | |
| NG_033042.1:g.10542T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.245A>C (IDUA) | ENSP00000247933.4:p.His82Pro | |
| ENST00000398516.3:c.*938T>G (SLC26A1) MANE Select | ENSP00000381528.2:n.*938T>G | |
| ENST00000514224.2:c.245A>C (IDUA) MANE Select | ENSP00000425081.2:p.His82Pro | |
| ENST00000247933.8:c.245A>C (IDUA) | ENSP00000247933.4:p.His82Pro | |
| ENST00000361661.6:c.*938T>G (SLC26A1) | ENSP00000354721.2:n.*938T>G | |
| ENST00000398520.6:c.576+3233T>G (SLC26A1) | ENSP00000381532.2:n.576+3233T>G | |
| ENST00000502910.5:c.158+653A>C (IDUA) | ENSP00000422952.1:n.158+653A>C | |
| ENST00000504568.5:c.243A>C (IDUA) | ||
| ENST00000506561.5:n.254A>C (IDUA) | ||
| ENST00000508168.5:n.177+653A>C (IDUA) | ||
| ENST00000514698.5:n.199+653A>C (IDUA) | ||
| ENST00000622731.4:c.576+3233T>G (SLC26A1) | ENSP00000483506.1:n.576+3233T>G | |
| NM_000203.4:c.245A>C (IDUA) | NP_000194.2:p.His82Pro | |
| NM_022042.3:c.*938T>G (SLC26A1) | NP_071325.2:n.*938T>G | |
| NM_134425.2:c.576+3233T>G (SLC26A1) | NP_602297.1:n.576+3233T>G | |
| NM_213613.3:c.*938T>G (SLC26A1) | NP_998778.1:n.*938T>G | |
| NR_110313.1:n.333A>C (IDUA) | ||
| XM_006713856.2:c.*938T>G (SLC26A1) | XP_006713919.1:n.*938T>G | |
| XM_011513459.1:c.158+653A>C (IDUA) | XP_011511761.1:n.158+653A>C | |
| XM_011513460.1:c.158+653A>C (IDUA) | XP_011511762.1:n.158+653A>C | |
| XM_011513462.1:c.-869A>C (IDUA) | XP_011511764.1:n.-869A>C | |
| XR_924947.1:n.314A>C (IDUA) | ||
| NM_000203.5:c.245A>C (IDUA) MANE Select | NP_000194.2:p.His82Pro | |
| XM_017008163.1:c.-1222A>C (IDUA) | XP_016863652.1:n.-1222A>C | |
| NM_022042.4:c.*938T>G (SLC26A1) MANE Select | NP_071325.2:n.*938T>G | |
| NM_134425.3:c.576+3233T>G (SLC26A1) | NP_602297.1:n.576+3233T>G | |
| NM_213613.4:c.*938T>G (SLC26A1) | NP_998778.1:n.*938T>G | |
| NM_134425.4:c.576+3233T>G (SLC26A1) | NP_602297.1:n.576+3233T>G |