{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580100861",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.541-14C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2065278[alleleid]",
        "alleleId": 2065278,
        "preferredName": "NM_000531.6(OTC):c.541-14C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2017637",
        "RCV": [
          "RCV002835278"
        ],
        "variationId": 2017637
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759424912",
        "rs": 759424912
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38403604,
          "referenceAllele": "C",
          "start": 38403603
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38403604C>T",
        "CM000685.2:g.38403604C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38262857,
          "referenceAllele": "C",
          "start": 38262856
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38262857C>T",
        "CM000685.1:g.38262857C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38147801,
          "referenceAllele": "C",
          "start": 38147800
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38147801C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56122,
          "referenceAllele": "C",
          "start": 56121
        }
      ],
      "hgvs": [
        "NG_008471.1:g.56122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 633,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.541-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:n.541-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.541-14C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.541-14C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:n.541-14C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:n.541-14C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 794,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.*291-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:n.*291-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 692,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.541-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:n.541-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 262516,
          "referenceAllele": "C",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 262517
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-262517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-262517C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 577,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.578-14C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.541-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:n.541-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.541-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:n.541-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "C",
          "start": 633,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.541-14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:n.541-14C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.541-14C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.541-14C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:n.541-14C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:n.541-14C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}