{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412716867",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.241T>C (p.Ser81Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1337265[alleleid]",
        "alleleId": 1337265,
        "preferredName": "NM_000531.6(OTC):c.241T>C (p.Ser81Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1504390",
        "RCV": [
          "RCV002028760"
        ],
        "variationId": 1504390
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38229073T>C?assembly=hg19",
        "id": "chrX:g.38229073T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38369820T>C?assembly=hg38",
        "id": "chrX:g.38369820T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147324956",
        "rs": 2147324956
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38369820,
          "referenceAllele": "T",
          "start": 38369819
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38369820T>C",
        "CM000685.2:g.38369820T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38229073,
          "referenceAllele": "T",
          "start": 38229072
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38229073T>C",
        "CM000685.1:g.38229073T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 38114017,
          "referenceAllele": "T",
          "start": 38114016
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38114017T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22338,
          "referenceAllele": "T",
          "start": 22337
        }
      ],
      "hgvs": [
        "NG_008471.1:g.22338T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Ser81Pro",
        "hgvsWellDefined": "ENSP00000039007.4:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.241T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.241T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Ser81Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Ser81Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "T",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:p.Ser81Pro",
        "hgvsWellDefined": "ENSP00000496606.1:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Ser81Pro",
        "hgvsWellDefined": "ENSP00000039007.4:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 296300,
          "referenceAllele": "T",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 296301
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-296301T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-296301T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.333T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573171230",
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "referenceAllele": "T",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Ser81Pro",
        "hgvsWellDefined": "NP_000522.3:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Ser81Pro",
        "hgvsWellDefined": "XP_016885045.1:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573171230",
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Ser81Pro",
        "hgvsWellDefined": "NP_000522.3:p.Ser81Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.241T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.241T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Ser81Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Ser81Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}