{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA91169040",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1351542[alleleid]",
        "alleleId": 1351542,
        "preferredName": "NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1478034",
        "RCV": [
          "RCV001973995",
          "RCV003134312",
          "RCV003230722"
        ],
        "variationId": 1478034
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.996124G>C?assembly=hg19",
        "id": "chr4:g.996124G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1002336G>C?assembly=hg38",
        "id": "chr4:g.1002336G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780106243",
        "rs": 780106243
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002336,
          "referenceAllele": "G",
          "start": 1002335
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1002336G>C",
        "CM000666.2:g.1002336G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 996124,
          "referenceAllele": "G",
          "start": 996123
        }
      ],
      "hgvs": [
        "NC_000004.11:g.996124G>C",
        "CM000666.1:g.996124G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 986124,
          "referenceAllele": "G",
          "start": 986123
        }
      ],
      "hgvs": [
        "NC_000004.10:g.986124G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20340,
          "referenceAllele": "G",
          "start": 20339
        }
      ],
      "hgvs": [
        "NG_008103.1:g.20340G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.1040G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ser347Thr",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ser347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.1040G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Ser347Thr",
        "hgvsWellDefined": "ENSP00000425081.2:p.Ser347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1040G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1040G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ser347Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ser347Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.1096G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.1040G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ser347Thr",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ser347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.644G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Ser215Thr",
        "hgvsWellDefined": "ENSP00000425081.1:p.Ser215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.1147G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164487",
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.1040G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ser347Thr",
        "hgvsWellDefined": "NP_000194.2:p.Ser347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.1128G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.644G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Ser215Thr",
        "hgvsWellDefined": "XP_006713945.1:p.Ser215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.1106G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Ser369Thr",
        "hgvsWellDefined": "XP_011511761.1:p.Ser369Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.899G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Ser300Thr",
        "hgvsWellDefined": "XP_011511762.1:p.Ser300Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "G",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ser278Thr",
        "hgvsWellDefined": "XP_011511763.1:p.Ser278Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.752G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Ser251Thr",
        "hgvsWellDefined": "XP_011511764.1:p.Ser251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.752G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Ser251Thr",
        "hgvsWellDefined": "XP_011511765.1:p.Ser251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.1109G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164487",
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.1040G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ser347Thr",
        "hgvsWellDefined": "NP_000194.2:p.Ser347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1040G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1040G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ser347Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ser347Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097271",
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.644G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Ser215Thr",
        "hgvsWellDefined": "NP_001350505.1:p.Ser215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ser278Thr",
        "hgvsWellDefined": "XP_011511763.1:p.Ser278Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.80G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:p.Ser27Thr",
        "hgvsWellDefined": "XP_016863652.1:p.Ser27Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}