{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2424882694",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.548A= (p.Tyr183=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72556293",
        "rs": 72556293
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38403625,
          "referenceAllele": "A",
          "start": 38403624
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38403625A=",
        "CM000685.2:g.38403625A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38262878,
          "referenceAllele": "A",
          "start": 38262877
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38262878A=",
        "CM000685.1:g.38262878A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38147822,
          "referenceAllele": "A",
          "start": 38147821
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38147822A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56143,
          "referenceAllele": "A",
          "start": 56142
        }
      ],
      "hgvs": [
        "NG_008471.1:g.56143A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "A",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.548A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.548A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.548A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Tyr183="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Tyr183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.*298A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:n.*298A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.548A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 262495,
          "referenceAllele": "A",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 262496
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-262496A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-262496A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.585A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193319",
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.548A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.548A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193319",
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "A",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.548A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.548A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.548A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Tyr183="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Tyr183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}