Linked Data
ClinVar Variation Id:
92651
dbSNP Id:
rs10794537
ExAC:
4:980971 T / G
gnomAD v2:
4-980971-T-G
gnomAD v3:
4-987183-T-G
gnomAD v4:
4-987183-T-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987183T>G , CM000666.2:g.987183T>G | GRCh38 |
| NC_000004.11:g.980971T>G , CM000666.1:g.980971T>G | GRCh37 |
| NC_000004.10:g.970971T>G | NCBI36 |
| NG_008103.1:g.5187T>G | |
| NG_033042.1:g.11254A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.99T>G (IDUA) | ENSP00000247933.4:p.His33Gln | |
| ENST00000514224.2:c.99T>G (IDUA) MANE Select | ENSP00000425081.2:p.His33Gln | |
| ENST00000247933.8:c.99T>G (IDUA) | ENSP00000247933.4:p.His33Gln | |
| ENST00000398520.6:c.576+3945A>C (SLC26A1) | ENSP00000381532.2:n.576+3945A>C | |
| ENST00000502910.5:c.99T>G (IDUA) | ENSP00000422952.1:p.His33Gln | |
| ENST00000504568.5:c.97T>G (IDUA) | ||
| ENST00000506561.5:n.108T>G (IDUA) | ||
| ENST00000508168.5:n.118T>G (IDUA) | ||
| ENST00000514698.5:n.140T>G (IDUA) | ||
| ENST00000622731.4:c.576+3945A>C (SLC26A1) | ENSP00000483506.1:n.576+3945A>C | |
| NM_000203.4:c.99T>G (IDUA) | NP_000194.2:p.His33Gln | |
| NM_134425.2:c.576+3945A>C (SLC26A1) | NP_602297.1:n.576+3945A>C | |
| NR_110313.1:n.187T>G (IDUA) | ||
| XM_011513459.1:c.99T>G (IDUA) | XP_011511761.1:p.His33Gln | |
| XM_011513460.1:c.99T>G (IDUA) | XP_011511762.1:p.His33Gln | |
| XR_924947.1:n.168T>G (IDUA) | ||
| NM_000203.5:c.99T>G (IDUA) MANE Select | NP_000194.2:p.His33Gln | |
| XM_017008163.1:c.-1368T>G (IDUA) | XP_016863652.1:n.-1368T>G | |
| NM_134425.3:c.576+3945A>C (SLC26A1) | NP_602297.1:n.576+3945A>C | |
| NM_134425.4:c.576+3945A>C (SLC26A1) | NP_602297.1:n.576+3945A>C |