{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2424871672",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.259G= (p.Glu87=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72554338",
        "rs": 72554338
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 38369838,
          "referenceAllele": "G",
          "start": 38369837
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38369838G=",
        "CM000685.2:g.38369838G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 38229091,
          "referenceAllele": "G",
          "start": 38229090
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38229091G=",
        "CM000685.1:g.38229091G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 38114035,
          "referenceAllele": "G",
          "start": 38114034
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38114035G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22356,
          "referenceAllele": "G",
          "start": 22355
        }
      ],
      "hgvs": [
        "NG_008471.1:g.22356G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.259G="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.259G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Glu87="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Glu87="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 296282,
          "referenceAllele": "G",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 296283
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-296283G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-296283G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.351G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193280",
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193280",
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.259G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Glu87="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.259G="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.259G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Glu87="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Glu87="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}