{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2465010076",
  "communityStandardTitle": [
    "NM_000202.8(IDS):c.479C= (p.Pro160=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894856",
        "rs": 104894856
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 149500977,
          "referenceAllele": "G",
          "start": 149500976
        }
      ],
      "hgvs": [
        "NC_000023.11:g.149500977G=",
        "CM000685.2:g.149500977G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 148582508,
          "referenceAllele": "G",
          "start": 148582507
        }
      ],
      "hgvs": [
        "NC_000023.10:g.148582508G=",
        "CM000685.1:g.148582508G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 148390413,
          "referenceAllele": "G",
          "start": 148390412
        }
      ],
      "hgvs": [
        "NC_000023.9:g.148390413G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9358,
          "referenceAllele": "C",
          "start": 9357
        }
      ],
      "hgvs": [
        "NG_011900.3:g.9358C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002049"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000340855.11:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339801.6:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747938",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340855.11:c.479C="
          },
          "RefSeq": {
            "hgvs": "NM_000202.8:c.479C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339801.6:p.Pro160="
          },
          "RefSeq": {
            "hgvs": "NP_000193.1:p.Pro160="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2343,
          "referenceAllele": "C",
          "start": 2342
        }
      ],
      "hgvs": [
        "ENST00000651111.1:c.-155C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498395.1:n.-155C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000340855.10:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339801.6:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000370441.8:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359470.4:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "hgvs": [
        "ENST00000422081.6:c.-155C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477056.1:n.-155C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "endIntronDirection": "-",
          "endIntronOffset": 13878,
          "referenceAllele": "C",
          "start": 113,
          "startIntronDirection": "-",
          "startIntronOffset": 13879
        }
      ],
      "hgvs": [
        "ENST00000441880.1:n.114-13879C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000464251.5:c.405C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428980.1:n.405C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000466323.5:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418264.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "ENST00000490775.5:n.138C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "hgvs": [
        "ENST00000523759.5:n.593C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081564",
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_000202.6:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000193.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826033052",
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_001166550.2:c.209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160022.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829630566",
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_006123.4:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006114.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NR_104128.1:n.696C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081564",
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_000202.7:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000193.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826033052",
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_001166550.3:c.209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160022.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081564",
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_000202.8:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000193.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340855.11:c.479C="
          },
          "RefSeq": {
            "hgvs": "NM_000202.8:c.479C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339801.6:p.Pro160="
          },
          "RefSeq": {
            "hgvs": "NP_000193.1:p.Pro160="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826033052",
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_001166550.4:c.209C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001160022.1:p.Pro70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829630566",
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_006123.5:c.479C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006114.1:p.Pro160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NR_104128.2:n.648C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702935"
    }
  ],
  "type": "nucleotide"
}