{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10385897",
  "communityStandardTitle": [
    "NM_000531.6(OTC):c.622G>T (p.Ala208Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2143523[alleleid]",
        "alleleId": 2143523,
        "preferredName": "NM_000531.6(OTC):c.622G>T (p.Ala208Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2083011",
        "RCV": [
          "RCV003009009",
          "RCV004526215"
        ],
        "variationId": 2083011
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-38262952-G-T",
        "id": "X-38262952-G-T",
        "variant": "X:38262952 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38262952G>T?assembly=hg19",
        "id": "chrX:g.38262952G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38403699G>T?assembly=hg38",
        "id": "chrX:g.38403699G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72558416",
        "rs": 72558416
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38262952-G-T?dataset=gnomad_r2_1",
        "id": "X-38262952-G-T",
        "variant": "X:38262952 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38403699-G-T?dataset=gnomad_r4",
        "id": "X-38403699-G-T",
        "variant": "X:38403699 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38403699,
          "referenceAllele": "G",
          "start": 38403698
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38403699G>T",
        "CM000685.2:g.38403699G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38262952,
          "referenceAllele": "G",
          "start": 38262951
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38262952G>T",
        "CM000685.1:g.38262952G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 38147896,
          "referenceAllele": "G",
          "start": 38147895
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38147896G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56217,
          "referenceAllele": "G",
          "start": 56216
        }
      ],
      "hgvs": [
        "NG_008471.1:g.56217G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.5:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Ala208Ser",
        "hgvsWellDefined": "ENSP00000039007.4:p.Ala208Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.622G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.622G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Ala208Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Ala208Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000643344.1:c.*372G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496606.1:n.*372G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "ENST00000039007.4:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000039007.4:p.Ala208Ser",
        "hgvsWellDefined": "ENSP00000039007.4:p.Ala208Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 262421,
          "referenceAllele": "G",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 262422
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-262422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-262422G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186178",
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.5:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Ala208Ser",
        "hgvsWellDefined": "NP_000522.3:p.Ala208Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "XM_017029556.1:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885045.1:p.Ala208Ser",
        "hgvsWellDefined": "XP_016885045.1:p.Ala208Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825186178",
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008512",
      "geneNCBI_id": 5009,
      "geneSymbol": "OTC",
      "hgvs": [
        "NM_000531.6:c.622G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000522.3:p.Ala208Ser",
        "hgvsWellDefined": "NP_000522.3:p.Ala208Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000039007.5:c.622G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000531.6:c.622G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000039007.4:p.Ala208Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000522.3:p.Ala208Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}