Linked Data
ClinVar Variation Id:
92647
dbSNP Id:
rs10902762
ExAC:
4:980932 G / A
gnomAD v2:
4-980932-G-A
gnomAD v3:
4-987144-G-A
gnomAD v4:
4-987144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987144G>A , CM000666.2:g.987144G>A | GRCh38 |
| NC_000004.11:g.980932G>A , CM000666.1:g.980932G>A | GRCh37 |
| NC_000004.10:g.970932G>A | NCBI36 |
| NG_008103.1:g.5148G>A | |
| NG_033042.1:g.11293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.60G>A (IDUA) | ENSP00000247933.4:p.Ala20= | |
| ENST00000514224.2:c.60G>A (IDUA) MANE Select | ENSP00000425081.2:p.Ala20= | |
| ENST00000247933.8:c.60G>A (IDUA) | ENSP00000247933.4:p.Ala20= | |
| ENST00000398520.6:c.576+3984C>T (SLC26A1) | ENSP00000381532.2:n.576+3984C>T | |
| ENST00000502910.5:c.60G>A (IDUA) | ENSP00000422952.1:p.Ala20= | |
| ENST00000504568.5:c.58G>A (IDUA) | ||
| ENST00000506561.5:n.69G>A (IDUA) | ||
| ENST00000508168.5:n.79G>A (IDUA) | ||
| ENST00000514698.5:n.101G>A (IDUA) | ||
| ENST00000622731.4:c.576+3984C>T (SLC26A1) | ENSP00000483506.1:n.576+3984C>T | |
| NM_000203.4:c.60G>A (IDUA) | NP_000194.2:p.Ala20= | |
| NM_134425.2:c.576+3984C>T (SLC26A1) | NP_602297.1:n.576+3984C>T | |
| NR_110313.1:n.148G>A (IDUA) | ||
| XM_011513459.1:c.60G>A (IDUA) | XP_011511761.1:p.Ala20= | |
| XM_011513460.1:c.60G>A (IDUA) | XP_011511762.1:p.Ala20= | |
| XR_924947.1:n.129G>A (IDUA) | ||
| NM_000203.5:c.60G>A (IDUA) MANE Select | NP_000194.2:p.Ala20= | |
| XM_017008163.1:c.-1407G>A (IDUA) | XP_016863652.1:n.-1407G>A | |
| NM_134425.3:c.576+3984C>T (SLC26A1) | NP_602297.1:n.576+3984C>T | |
| NM_134425.4:c.576+3984C>T (SLC26A1) | NP_602297.1:n.576+3984C>T |