Linked Data
ClinVar Variation Id:
1323098
dbSNP Id:
rs1553914737
gnomAD v4:
4-987085-A-G
COSMIC:
COSM481700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987085A>G , CM000666.2:g.987085A>G | GRCh38 |
| NC_000004.11:g.980873A>G , CM000666.1:g.980873A>G | GRCh37 |
| NC_000004.10:g.970873A>G | NCBI36 |
| NG_008103.1:g.5089A>G | |
| NG_033042.1:g.11352T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1A>G (IDUA) | ENSP00000247933.4:p.Met1Val | |
| ENST00000514224.2:c.1A>G (IDUA) MANE Select | ENSP00000425081.2:p.Met1Val | |
| ENST00000247933.8:c.1A>G (IDUA) | ENSP00000247933.4:p.Met1Val | |
| ENST00000398520.6:c.576+4043T>C (SLC26A1) | ENSP00000381532.2:n.576+4043T>C | |
| ENST00000502910.5:c.1A>G (IDUA) | ENSP00000422952.1:p.Met1Val | |
| ENST00000506561.5:n.10A>G (IDUA) | ||
| ENST00000508168.5:n.20A>G (IDUA) | ||
| ENST00000514698.5:n.42A>G (IDUA) | ||
| ENST00000622731.4:c.576+4043T>C (SLC26A1) | ENSP00000483506.1:n.576+4043T>C | |
| NM_000203.4:c.1A>G (IDUA) | NP_000194.2:p.Met1Val | |
| NM_134425.2:c.576+4043T>C (SLC26A1) | NP_602297.1:n.576+4043T>C | |
| NR_110313.1:n.89A>G (IDUA) | ||
| XM_011513459.1:c.1A>G (IDUA) | XP_011511761.1:p.Met1Val | |
| XM_011513460.1:c.1A>G (IDUA) | XP_011511762.1:p.Met1Val | |
| XR_924947.1:n.70A>G (IDUA) | ||
| NM_000203.5:c.1A>G (IDUA) MANE Select | NP_000194.2:p.Met1Val | |
| XM_017008163.1:c.-1466A>G (IDUA) | XP_016863652.1:n.-1466A>G | |
| NM_134425.3:c.576+4043T>C (SLC26A1) | NP_602297.1:n.576+4043T>C | |
| NM_134425.4:c.576+4043T>C (SLC26A1) | NP_602297.1:n.576+4043T>C |