Linked Data
ClinVar Variation Id:
11909
ClinVar RCV Id:
RCV000012684
RCV000185562
RCV000185563
RCV000276574
RCV000763532
RCV000790700
RCV001526587
dbSNP Id:
rs121965020
ExAC:
4:981646 C / T
gnomAD v2:
4-981646-C-T
gnomAD v3:
4-987858-C-T
gnomAD v4:
4-987858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987858C>T , CM000666.2:g.987858C>T | GRCh38 |
| NC_000004.11:g.981646C>T , CM000666.1:g.981646C>T | GRCh37 |
| NC_000004.10:g.971646C>T | NCBI36 |
| NG_008103.1:g.5862C>T | |
| NG_033042.1:g.10579G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.208C>T (IDUA) | ENSP00000247933.4:p.Gln70Ter | |
| ENST00000398516.3:c.*975G>A (SLC26A1) MANE Select | ENSP00000381528.2:n.*975G>A | |
| ENST00000514224.2:c.208C>T (IDUA) MANE Select | ENSP00000425081.2:p.Gln70Ter | |
| ENST00000247933.8:c.208C>T (IDUA) | ENSP00000247933.4:p.Gln70Ter | |
| ENST00000361661.6:c.*975G>A (SLC26A1) | ENSP00000354721.2:n.*975G>A | |
| ENST00000398520.6:c.576+3270G>A (SLC26A1) | ENSP00000381532.2:n.576+3270G>A | |
| ENST00000502910.5:c.158+616C>T (IDUA) | ENSP00000422952.1:n.158+616C>T | |
| ENST00000504568.5:c.206C>T (IDUA) | ||
| ENST00000506561.5:n.217C>T (IDUA) | ||
| ENST00000508168.5:n.177+616C>T (IDUA) | ||
| ENST00000514698.5:n.199+616C>T (IDUA) | ||
| ENST00000622731.4:c.576+3270G>A (SLC26A1) | ENSP00000483506.1:n.576+3270G>A | |
| NM_000203.4:c.208C>T (IDUA) | NP_000194.2:p.Gln70Ter | |
| NM_022042.3:c.*975G>A (SLC26A1) | NP_071325.2:n.*975G>A | |
| NM_134425.2:c.576+3270G>A (SLC26A1) | NP_602297.1:n.576+3270G>A | |
| NM_213613.3:c.*975G>A (SLC26A1) | NP_998778.1:n.*975G>A | |
| NR_110313.1:n.296C>T (IDUA) | ||
| XM_006713856.2:c.*975G>A (SLC26A1) | XP_006713919.1:n.*975G>A | |
| XM_011513459.1:c.158+616C>T (IDUA) | XP_011511761.1:n.158+616C>T | |
| XM_011513460.1:c.158+616C>T (IDUA) | XP_011511762.1:n.158+616C>T | |
| XR_924947.1:n.277C>T (IDUA) | ||
| NM_000203.5:c.208C>T (IDUA) MANE Select | NP_000194.2:p.Gln70Ter | |
| XM_017008163.1:c.-1259C>T (IDUA) | XP_016863652.1:n.-1259C>T | |
| NM_022042.4:c.*975G>A (SLC26A1) MANE Select | NP_071325.2:n.*975G>A | |
| NM_134425.3:c.576+3270G>A (SLC26A1) | NP_602297.1:n.576+3270G>A | |
| NM_213613.4:c.*975G>A (SLC26A1) | NP_998778.1:n.*975G>A | |
| NM_134425.4:c.576+3270G>A (SLC26A1) | NP_602297.1:n.576+3270G>A |