Linked Data
ClinVar Variation Id:
725873
dbSNP Id:
rs201106151
ExAC:
4:983216 C / T
gnomAD v2:
4-983216-C-T
gnomAD v3:
4-989428-C-T
gnomAD v4:
4-989428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.989428C>T , CM000666.2:g.989428C>T | GRCh38 |
| NC_000004.11:g.983216C>T , CM000666.1:g.983216C>T | GRCh37 |
| NC_000004.10:g.973216C>T | NCBI36 |
| NG_008103.1:g.7432C>T | |
| NG_033042.1:g.9009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.299+1479C>T (IDUA) | ENSP00000247933.4:n.299+1479C>T | |
| ENST00000398516.3:c.1511G>A (SLC26A1) MANE Select | ENSP00000381528.2:p.Arg504His | |
| ENST00000514224.2:c.299+1479C>T (IDUA) MANE Select | ENSP00000425081.2:n.299+1479C>T | |
| ENST00000247933.8:c.299+1479C>T (IDUA) | ENSP00000247933.4:n.299+1479C>T | |
| ENST00000361661.6:c.1511G>A (SLC26A1) | ENSP00000354721.2:p.Arg504His | |
| ENST00000398516.2:c.1511G>A (SLC26A1) | ENSP00000381528.2:p.Arg504His | |
| ENST00000398520.6:c.576+1700G>A (SLC26A1) | ENSP00000381532.2:n.576+1700G>A | |
| ENST00000502910.5:c.158+2186C>T (IDUA) | ENSP00000422952.1:n.158+2186C>T | |
| ENST00000504568.5:c.259+1517C>T (IDUA) | ||
| ENST00000506561.5:n.308+1479C>T (IDUA) | ||
| ENST00000508168.5:n.177+2186C>T (IDUA) | ||
| ENST00000509744.1:n.233C>T (IDUA) | ||
| ENST00000514698.5:n.199+2186C>T (IDUA) | ||
| ENST00000622731.4:c.576+1700G>A (SLC26A1) | ENSP00000483506.1:n.576+1700G>A | |
| NM_000203.4:c.299+1479C>T (IDUA) | NP_000194.2:n.299+1479C>T | |
| NM_022042.3:c.1511G>A (SLC26A1) | NP_071325.2:p.Arg504His | |
| NM_134425.2:c.576+1700G>A (SLC26A1) | NP_602297.1:n.576+1700G>A | |
| NM_213613.3:c.1511G>A (SLC26A1) | NP_998778.1:p.Arg504His | |
| NR_110313.1:n.387+1479C>T (IDUA) | ||
| XM_006713856.2:c.1511G>A (SLC26A1) | XP_006713919.1:p.Arg504His | |
| XM_011513459.1:c.158+2186C>T (IDUA) | XP_011511761.1:n.158+2186C>T | |
| XM_011513460.1:c.158+2186C>T (IDUA) | XP_011511762.1:n.158+2186C>T | |
| XM_011513462.1:c.-815+1479C>T (IDUA) | XP_011511764.1:n.-815+1479C>T | |
| XR_924947.1:n.368+1479C>T (IDUA) | ||
| NM_000203.5:c.299+1479C>T (IDUA) MANE Select | NP_000194.2:n.299+1479C>T | |
| XM_017008163.1:c.-1168+1479C>T (IDUA) | XP_016863652.1:n.-1168+1479C>T | |
| NM_022042.4:c.1511G>A (SLC26A1) MANE Select | NP_071325.2:p.Arg504His | |
| NM_134425.3:c.576+1700G>A (SLC26A1) | NP_602297.1:n.576+1700G>A | |
| NM_213613.4:c.1511G>A (SLC26A1) | NP_998778.1:p.Arg504His | |
| NM_134425.4:c.576+1700G>A (SLC26A1) | NP_602297.1:n.576+1700G>A |