{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355946725",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.299+1G>C",
    "NM_022042.4(SLC26A1):c.*883C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1313379[alleleid]",
        "alleleId": 1313379,
        "preferredName": "NM_000203.5(IDUA):c.299+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323093",
        "RCV": [
          "RCV001783457",
          "RCV003754918"
        ],
        "variationId": 1323093
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.981738G>C?assembly=hg19",
        "id": "chr4:g.981738G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.987950G>C?assembly=hg38",
        "id": "chr4:g.987950G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123259",
        "rs": 398123259
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 987950,
          "referenceAllele": "G",
          "start": 987949
        }
      ],
      "hgvs": [
        "NC_000004.12:g.987950G>C",
        "CM000666.2:g.987950G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 981738,
          "referenceAllele": "G",
          "start": 981737
        }
      ],
      "hgvs": [
        "NC_000004.11:g.981738G>C",
        "CM000666.1:g.981738G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 971738,
          "referenceAllele": "G",
          "start": 971737
        }
      ],
      "hgvs": [
        "NC_000004.10:g.971738G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5954,
          "referenceAllele": "G",
          "start": 5953
        }
      ],
      "hgvs": [
        "NG_008103.1:g.5954G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10487,
          "referenceAllele": "C",
          "start": 10486
        }
      ],
      "hgvs": [
        "NG_033042.1:g.10487C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005375"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.299+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:n.299+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3120,
          "referenceAllele": "C",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "ENST00000398516.3:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381528.2:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398516.3:c.*883C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022042.4:c.*883C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381528.2:n.*883C>G"
          },
          "RefSeq": {
            "hgvs": "NP_071325.2:n.*883C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.299+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:n.299+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.299+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.299+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:n.299+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:n.299+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.299+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:n.299+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3367,
          "referenceAllele": "C",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "ENST00000361661.6:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354721.2:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "endIntronDirection": "+",
          "endIntronOffset": 3178,
          "referenceAllele": "C",
          "start": 679,
          "startIntronDirection": "+",
          "startIntronOffset": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "ENST00000398520.6:c.576+3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381532.2:n.576+3178C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 708,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000502910.5:c.158+708G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422952.1:n.158+708G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "endIntronDirection": "+",
          "endIntronOffset": 39,
          "referenceAllele": "G",
          "start": 259,
          "startIntronDirection": "+",
          "startIntronOffset": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000504568.5:c.259+39G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000506561.5:n.308+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 708,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000508168.5:n.177+708G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000509744.1:n.35+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 708,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.199+708G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 3178,
          "referenceAllele": "C",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "ENST00000622731.4:c.576+3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483506.1:n.576+3178C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.299+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:n.299+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3156,
          "referenceAllele": "C",
          "start": 3155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_022042.3:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071325.2:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 3178,
          "referenceAllele": "C",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_134425.2:c.576+3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_602297.1:n.576+3178C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3371,
          "referenceAllele": "C",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_213613.3:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_998778.1:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.387+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4513,
          "referenceAllele": "C",
          "start": 4512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "XM_006713856.2:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713919.1:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 708,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.158+708G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:n.158+708G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 708,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.158+708G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:n.158+708G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.-815+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:n.-815+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.368+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.299+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:n.299+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.299+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.299+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:n.299+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:n.299+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.-1168+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:n.-1168+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3120,
          "referenceAllele": "C",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_022042.4:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071325.2:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398516.3:c.*883C>G"
          },
          "RefSeq": {
            "hgvs": "NM_022042.4:c.*883C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381528.2:n.*883C>G"
          },
          "RefSeq": {
            "hgvs": "NP_071325.2:n.*883C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "endIntronDirection": "+",
          "endIntronOffset": 3178,
          "referenceAllele": "C",
          "start": 707,
          "startIntronDirection": "+",
          "startIntronOffset": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_134425.3:c.576+3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_602297.1:n.576+3178C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3335,
          "referenceAllele": "C",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_213613.4:c.*883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_998778.1:n.*883C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "endIntronDirection": "+",
          "endIntronOffset": 3178,
          "referenceAllele": "C",
          "start": 707,
          "startIntronDirection": "+",
          "startIntronOffset": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010993",
      "geneNCBI_id": 10861,
      "geneSymbol": "SLC26A1",
      "hgvs": [
        "NM_134425.4:c.576+3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_602297.1:n.576+3178C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729126"
    }
  ],
  "type": "nucleotide"
}