{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220513",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98555[alleleid]",
        "alleleId": 98555,
        "preferredName": "NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92648",
        "RCV": [
          "RCV000078398",
          "RCV001854379"
        ],
        "variationId": 92648
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-995644-T-C",
        "id": "4-995644-T-C",
        "variant": "4:995644 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.995644T>C?assembly=hg19",
        "id": "chr4:g.995644T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1001856T>C?assembly=hg38",
        "id": "chr4:g.1001856T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373037758",
        "rs": 373037758
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-995644-T-C?dataset=gnomad_r2_1",
        "id": "4-995644-T-C",
        "variant": "4:995644 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1001856-T-C?dataset=gnomad_r3",
        "id": "4-1001856-T-C",
        "variant": "4:1001856 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1001856-T-C?dataset=gnomad_r4",
        "id": "4-1001856-T-C",
        "variant": "4:1001856 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1001856,
          "referenceAllele": "T",
          "start": 1001855
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1001856T>C",
        "CM000666.2:g.1001856T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 995644,
          "referenceAllele": "T",
          "start": 995643
        }
      ],
      "hgvs": [
        "NC_000004.11:g.995644T>C",
        "CM000666.1:g.995644T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 985644,
          "referenceAllele": "T",
          "start": 985643
        }
      ],
      "hgvs": [
        "NC_000004.10:g.985644T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19860,
          "referenceAllele": "T",
          "start": 19859
        }
      ],
      "hgvs": [
        "NG_008103.1:g.19860T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.767T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Leu256Pro",
        "hgvsWellDefined": "ENSP00000247933.4:p.Leu256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.767T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Leu256Pro",
        "hgvsWellDefined": "ENSP00000425081.2:p.Leu256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.767T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.767T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Leu256Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Leu256Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.823T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.767T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Leu256Pro",
        "hgvsWellDefined": "ENSP00000247933.4:p.Leu256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000502910.5:c.626T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422952.1:p.Leu209Pro",
        "hgvsWellDefined": "ENSP00000422952.1:p.Leu209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "T",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514192.5:c.584T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423685.1:p.Leu195Pro",
        "hgvsWellDefined": "ENSP00000423685.1:p.Leu195Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Leu124Pro",
        "hgvsWellDefined": "ENSP00000425081.1:p.Leu124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.667T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220514",
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.767T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Leu256Pro",
        "hgvsWellDefined": "NP_000194.2:p.Leu256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.855T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "T",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.371T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Leu124Pro",
        "hgvsWellDefined": "XP_006713945.1:p.Leu124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Leu209Pro",
        "hgvsWellDefined": "XP_011511761.1:p.Leu209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.626T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Leu209Pro",
        "hgvsWellDefined": "XP_011511762.1:p.Leu209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.560T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Leu187Pro",
        "hgvsWellDefined": "XP_011511763.1:p.Leu187Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1376,
          "referenceAllele": "T",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.479T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Leu160Pro",
        "hgvsWellDefined": "XP_011511764.1:p.Leu160Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 674,
          "referenceAllele": "T",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.479T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Leu160Pro",
        "hgvsWellDefined": "XP_011511765.1:p.Leu160Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "T",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.836T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220514",
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.767T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Leu256Pro",
        "hgvsWellDefined": "NP_000194.2:p.Leu256Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.767T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.767T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Leu256Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Leu256Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097136",
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.371T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Leu124Pro",
        "hgvsWellDefined": "NP_001350505.1:p.Leu124Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1000,
          "referenceAllele": "T",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.560T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Leu187Pro",
        "hgvsWellDefined": "XP_011511763.1:p.Leu187Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.-194T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:n.-194T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}