{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2424875290",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.377A= (p.Asp126=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72554358",
        "rs": 72554358
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38381420,
          "referenceAllele": "A",
          "start": 38381419
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38381420A=",
        "CM000685.2:g.38381420A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38240673,
          "referenceAllele": "A",
          "start": 38240672
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38240673A=",
        "CM000685.1:g.38240673A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 38125617,
          "referenceAllele": "A",
          "start": 38125616
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38125617A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33938,
          "referenceAllele": "A",
          "start": 33937
        }
      ],
      "hgvs": [
        "NG_008471.1:g.33938A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.377A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.377A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.377A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Asp126="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Asp126="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 631,
          "referenceAllele": "A",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.*127A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:n.*127A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "A",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.377A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 284700,
          "referenceAllele": "A",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 284701
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-284701A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-284701A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.414A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193295",
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.377A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.377A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193295",
      "coordinates": [
        {
          "allele": "A",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.377A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Asp126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.377A="
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.377A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Asp126="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Asp126="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}