Linked Data
ClinVar Variation Id:
242375
dbSNP Id:
rs148832260
ExAC:
4:983654 G / A
gnomAD v2:
4-983654-G-A
gnomAD v3:
4-989866-G-A
gnomAD v4:
4-989866-G-A
PubMed:
PMID:27210743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.989866G>A , CM000666.2:g.989866G>A | GRCh38 |
| NC_000004.11:g.983654G>A , CM000666.1:g.983654G>A | GRCh37 |
| NC_000004.10:g.973654G>A | NCBI36 |
| NG_008103.1:g.7870G>A | |
| NG_033042.1:g.8571C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.299+1917G>A (IDUA) | ENSP00000247933.4:n.299+1917G>A | |
| ENST00000398516.3:c.1073C>T (SLC26A1) MANE Select | ENSP00000381528.2:p.Ser358Leu | |
| ENST00000514224.2:c.299+1917G>A (IDUA) MANE Select | ENSP00000425081.2:n.299+1917G>A | |
| ENST00000247933.8:c.299+1917G>A (IDUA) | ENSP00000247933.4:n.299+1917G>A | |
| ENST00000361661.6:c.1073C>T (SLC26A1) | ENSP00000354721.2:p.Ser358Leu | |
| ENST00000398516.2:c.1073C>T (SLC26A1) | ENSP00000381528.2:p.Ser358Leu | |
| ENST00000398520.6:c.576+1262C>T (SLC26A1) | ENSP00000381532.2:n.576+1262C>T | |
| ENST00000502910.5:c.158+2624G>A (IDUA) | ENSP00000422952.1:n.158+2624G>A | |
| ENST00000504568.5:c.259+1955G>A (IDUA) | ||
| ENST00000506561.5:n.308+1917G>A (IDUA) | ||
| ENST00000508168.5:n.177+2624G>A (IDUA) | ||
| ENST00000514698.5:n.199+2624G>A (IDUA) | ||
| ENST00000622731.4:c.576+1262C>T (SLC26A1) | ENSP00000483506.1:n.576+1262C>T | |
| NM_000203.4:c.299+1917G>A (IDUA) | NP_000194.2:n.299+1917G>A | |
| NM_022042.3:c.1073C>T (SLC26A1) | NP_071325.2:p.Ser358Leu | |
| NM_134425.2:c.576+1262C>T (SLC26A1) | NP_602297.1:n.576+1262C>T | |
| NM_213613.3:c.1073C>T (SLC26A1) | NP_998778.1:p.Ser358Leu | |
| NR_110313.1:n.387+1917G>A (IDUA) | ||
| XM_006713856.2:c.1073C>T (SLC26A1) | XP_006713919.1:p.Ser358Leu | |
| XM_011513459.1:c.158+2624G>A (IDUA) | XP_011511761.1:n.158+2624G>A | |
| XM_011513460.1:c.158+2624G>A (IDUA) | XP_011511762.1:n.158+2624G>A | |
| XM_011513462.1:c.-815+1917G>A (IDUA) | XP_011511764.1:n.-815+1917G>A | |
| XR_924947.1:n.368+1917G>A (IDUA) | ||
| NM_000203.5:c.299+1917G>A (IDUA) MANE Select | NP_000194.2:n.299+1917G>A | |
| XM_017008163.1:c.-1168+1917G>A (IDUA) | XP_016863652.1:n.-1168+1917G>A | |
| NM_022042.4:c.1073C>T (SLC26A1) MANE Select | NP_071325.2:p.Ser358Leu | |
| NM_134425.3:c.576+1262C>T (SLC26A1) | NP_602297.1:n.576+1262C>T | |
| NM_213613.4:c.1073C>T (SLC26A1) | NP_998778.1:p.Ser358Leu | |
| NM_134425.4:c.576+1262C>T (SLC26A1) | NP_602297.1:n.576+1262C>T |