{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2801870",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1883256[alleleid]",
        "alleleId": 1883256,
        "preferredName": "NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2156980",
        "RCV": [
          "RCV003077856",
          "RCV004071827"
        ],
        "variationId": 2156980
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-994413-C-T",
        "id": "4-994413-C-T",
        "variant": "4:994413 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.994413C>T?assembly=hg19",
        "id": "chr4:g.994413C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1000625C>T?assembly=hg38",
        "id": "chr4:g.1000625C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779553529",
        "rs": 779553529
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-994413-C-T?dataset=gnomad_r2_1",
        "id": "4-994413-C-T",
        "variant": "4:994413 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1000625-C-T?dataset=gnomad_r3",
        "id": "4-1000625-C-T",
        "variant": "4:1000625 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1000625-C-T?dataset=gnomad_r4",
        "id": "4-1000625-C-T",
        "variant": "4:1000625 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 1000625,
          "referenceAllele": "C",
          "start": 1000624
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1000625C>T",
        "CM000666.2:g.1000625C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 994413,
          "referenceAllele": "C",
          "start": 994412
        }
      ],
      "hgvs": [
        "NC_000004.11:g.994413C>T",
        "CM000666.1:g.994413C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 984413,
          "referenceAllele": "C",
          "start": 984412
        }
      ],
      "hgvs": [
        "NC_000004.10:g.984413C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18629,
          "referenceAllele": "C",
          "start": 18628
        }
      ],
      "hgvs": [
        "NG_008103.1:g.18629C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Arg105Trp",
        "hgvsWellDefined": "ENSP00000247933.4:p.Arg105Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Arg105Trp",
        "hgvsWellDefined": "ENSP00000425081.2:p.Arg105Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.313C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.313C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Arg105Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Arg105Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.369C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Arg105Trp",
        "hgvsWellDefined": "ENSP00000247933.4:p.Arg105Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000502910.5:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422952.1:p.Arg58Trp",
        "hgvsWellDefined": "ENSP00000422952.1:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000504568.5:c.273C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000506561.5:n.322C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000508168.5:n.191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000509948.5:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424227.1:p.Arg36Trp",
        "hgvsWellDefined": "ENSP00000424227.1:p.Arg36Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "C",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514192.5:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423685.1:p.Arg44Trp",
        "hgvsWellDefined": "ENSP00000423685.1:p.Arg44Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580108856",
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Arg105Trp",
        "hgvsWellDefined": "NP_000194.2:p.Arg105Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.401C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Arg58Trp",
        "hgvsWellDefined": "XP_011511761.1:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Arg58Trp",
        "hgvsWellDefined": "XP_011511762.1:p.Arg58Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Arg36Trp",
        "hgvsWellDefined": "XP_011511763.1:p.Arg36Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.-160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:n.-160C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "C",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.-160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:n.-160C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580108856",
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Arg105Trp",
        "hgvsWellDefined": "NP_000194.2:p.Arg105Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.313C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.313C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Arg105Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Arg105Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.-84C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:n.-84C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.106C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Arg36Trp",
        "hgvsWellDefined": "XP_011511763.1:p.Arg36Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.-1154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:n.-1154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}