{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2424870816",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.137A= (p.Lys46=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800321",
        "rs": 1800321
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38367350,
          "referenceAllele": "A",
          "start": 38367349
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38367350A=",
        "CM000685.2:g.38367350A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38226603,
          "referenceAllele": "A",
          "start": 38226602
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38226603A=",
        "CM000685.1:g.38226603A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38111547,
          "referenceAllele": "A",
          "start": 38111546
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38111547A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19868,
          "referenceAllele": "A",
          "start": 19867
        }
      ],
      "hgvs": [
        "NG_008471.1:g.19868A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "A",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.137A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.137A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Lys46="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Lys46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 298770,
          "referenceAllele": "A",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 298771
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-298771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-298771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "referenceAllele": "A",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.229A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187813",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "A",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187813",
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "A",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.137A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Lys46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.137A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.137A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Lys46="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Lys46="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}