Linked Data
ClinVar Variation Id:
2796989
ClinVar RCV Id:
RCV003755265
dbSNP Id:
rs755914562
gnomAD v2:
4-981046-C-T
gnomAD v4:
4-987258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987258C>T , CM000666.2:g.987258C>T | GRCh38 |
| NC_000004.11:g.981046C>T , CM000666.1:g.981046C>T | GRCh37 |
| NC_000004.10:g.971046C>T | NCBI36 |
| NG_008103.1:g.5262C>T | |
| NG_033042.1:g.11179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.158+16C>T (IDUA) | ENSP00000247933.4:n.158+16C>T | |
| ENST00000514224.2:c.158+16C>T (IDUA) MANE Select | ENSP00000425081.2:n.158+16C>T | |
| ENST00000247933.8:c.158+16C>T (IDUA) | ENSP00000247933.4:n.158+16C>T | |
| ENST00000398520.6:c.576+3870G>A (SLC26A1) | ENSP00000381532.2:n.576+3870G>A | |
| ENST00000502910.5:c.158+16C>T (IDUA) | ENSP00000422952.1:n.158+16C>T | |
| ENST00000504568.5:c.156+16C>T (IDUA) | ||
| ENST00000506561.5:n.167+16C>T (IDUA) | ||
| ENST00000508168.5:n.177+16C>T (IDUA) | ||
| ENST00000514698.5:n.199+16C>T (IDUA) | ||
| ENST00000622731.4:c.576+3870G>A (SLC26A1) | ENSP00000483506.1:n.576+3870G>A | |
| NM_000203.4:c.158+16C>T (IDUA) | NP_000194.2:n.158+16C>T | |
| NM_134425.2:c.576+3870G>A (SLC26A1) | NP_602297.1:n.576+3870G>A | |
| NR_110313.1:n.246+16C>T (IDUA) | ||
| XM_011513459.1:c.158+16C>T (IDUA) | XP_011511761.1:n.158+16C>T | |
| XM_011513460.1:c.158+16C>T (IDUA) | XP_011511762.1:n.158+16C>T | |
| XR_924947.1:n.227+16C>T (IDUA) | ||
| NM_000203.5:c.158+16C>T (IDUA) MANE Select | NP_000194.2:n.158+16C>T | |
| XM_017008163.1:c.-1309+16C>T (IDUA) | XP_016863652.1:n.-1309+16C>T | |
| NM_134425.3:c.576+3870G>A (SLC26A1) | NP_602297.1:n.576+3870G>A | |
| NM_134425.4:c.576+3870G>A (SLC26A1) | NP_602297.1:n.576+3870G>A |