Linked Data
ClinVar Variation Id:
1669239
ClinVar RCV Id:
RCV002198332
dbSNP Id:
rs2153015654
gnomAD v4:
4-987878-T-C
MyVariant Identifiers:
chr4:g.981666T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.987878T>C , CM000666.2:g.987878T>C | GRCh38 |
| NC_000004.11:g.981666T>C , CM000666.1:g.981666T>C | GRCh37 |
| NC_000004.10:g.971666T>C | NCBI36 |
| NG_008103.1:g.5882T>C | |
| NG_033042.1:g.10559A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.228T>C (IDUA) | ENSP00000247933.4:p.Tyr76= | |
| ENST00000398516.3:c.*955A>G (SLC26A1) MANE Select | ENSP00000381528.2:n.*955A>G | |
| ENST00000514224.2:c.228T>C (IDUA) MANE Select | ENSP00000425081.2:p.Tyr76= | |
| ENST00000247933.8:c.228T>C (IDUA) | ENSP00000247933.4:p.Tyr76= | |
| ENST00000361661.6:c.*955A>G (SLC26A1) | ENSP00000354721.2:n.*955A>G | |
| ENST00000398520.6:c.576+3250A>G (SLC26A1) | ENSP00000381532.2:n.576+3250A>G | |
| ENST00000502910.5:c.158+636T>C (IDUA) | ENSP00000422952.1:n.158+636T>C | |
| ENST00000504568.5:c.226T>C (IDUA) | ||
| ENST00000506561.5:n.237T>C (IDUA) | ||
| ENST00000508168.5:n.177+636T>C (IDUA) | ||
| ENST00000514698.5:n.199+636T>C (IDUA) | ||
| ENST00000622731.4:c.576+3250A>G (SLC26A1) | ENSP00000483506.1:n.576+3250A>G | |
| NM_000203.4:c.228T>C (IDUA) | NP_000194.2:p.Tyr76= | |
| NM_022042.3:c.*955A>G (SLC26A1) | NP_071325.2:n.*955A>G | |
| NM_134425.2:c.576+3250A>G (SLC26A1) | NP_602297.1:n.576+3250A>G | |
| NM_213613.3:c.*955A>G (SLC26A1) | NP_998778.1:n.*955A>G | |
| NR_110313.1:n.316T>C (IDUA) | ||
| XM_006713856.2:c.*955A>G (SLC26A1) | XP_006713919.1:n.*955A>G | |
| XM_011513459.1:c.158+636T>C (IDUA) | XP_011511761.1:n.158+636T>C | |
| XM_011513460.1:c.158+636T>C (IDUA) | XP_011511762.1:n.158+636T>C | |
| XM_011513462.1:c.-886T>C (IDUA) | XP_011511764.1:n.-886T>C | |
| XR_924947.1:n.297T>C (IDUA) | ||
| NM_000203.5:c.228T>C (IDUA) MANE Select | NP_000194.2:p.Tyr76= | |
| XM_017008163.1:c.-1239T>C (IDUA) | XP_016863652.1:n.-1239T>C | |
| NM_022042.4:c.*955A>G (SLC26A1) MANE Select | NP_071325.2:n.*955A>G | |
| NM_134425.3:c.576+3250A>G (SLC26A1) | NP_602297.1:n.576+3250A>G | |
| NM_213613.4:c.*955A>G (SLC26A1) | NP_998778.1:n.*955A>G | |
| NM_134425.4:c.576+3250A>G (SLC26A1) | NP_602297.1:n.576+3250A>G |