{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA515643880",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.78G>T (p.Arg26=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3230960[alleleid]",
        "alleleId": 3230960,
        "preferredName": "NM_000531.6(OTC):c.78G>T (p.Arg26=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3072519",
        "RCV": [
          "RCV004013541"
        ],
        "variationId": 3072519
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38226544G>T?assembly=hg19",
        "id": "chrX:g.38226544G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141273695",
        "rs": 141273695
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38367291-G-T?dataset=gnomad_r3",
        "id": "X-38367291-G-T",
        "variant": "X:38367291 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38367291-G-T?dataset=gnomad_r4",
        "id": "X-38367291-G-T",
        "variant": "X:38367291 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38367291,
          "referenceAllele": "G",
          "start": 38367290
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38367291G>T",
        "CM000685.2:g.38367291G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38226544,
          "referenceAllele": "G",
          "start": 38226543
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38226544G>T",
        "CM000685.1:g.38226544G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38111488,
          "referenceAllele": "G",
          "start": 38111487
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38111488G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19809,
          "referenceAllele": "G",
          "start": 19808
        }
      ],
      "hgvs": [
        "NG_008471.1:g.19809G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.78G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.78G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Arg26="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Arg26="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 298829,
          "referenceAllele": "G",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 298830
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-298830G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-298830G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000488812.1:n.170G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185249",
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "G",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825185249",
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.78G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.78G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.78G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Arg26="
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Arg26="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}