{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341684",
  "communityStandardTitle": [
    "NM_000346.4(SOX9):c.507C>T (p.His169=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM437264"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34016[alleleid]",
        "alleleId": 34016,
        "preferredName": "NM_000346.4(SOX9):c.507C>T (p.His169=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21164",
        "RCV": [
          "RCV000020284",
          "RCV000294198",
          "RCV001711074",
          "RCV002276568"
        ],
        "variationId": 21164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-70118935-C-T",
        "id": "17-70118935-C-T",
        "variant": "17:70118935 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.70118935C>T?assembly=hg19",
        "id": "chr17:g.70118935C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72122794C>T?assembly=hg38",
        "id": "chr17:g.72122794C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2229989",
        "rs": 2229989
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-70118935-C-T?dataset=gnomad_r2_1",
        "id": "17-70118935-C-T",
        "variant": "17:70118935 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72122794-C-T?dataset=gnomad_r3",
        "id": "17-72122794-C-T",
        "variant": "17:72122794 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72122794-C-T?dataset=gnomad_r4",
        "id": "17-72122794-C-T",
        "variant": "17:72122794 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 72122794,
          "referenceAllele": "C",
          "start": 72122793
        }
      ],
      "hgvs": [
        "NC_000017.11:g.72122794C>T",
        "CM000679.2:g.72122794C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 70118935,
          "referenceAllele": "C",
          "start": 70118934
        }
      ],
      "hgvs": [
        "NC_000017.10:g.70118935C>T",
        "CM000679.1:g.70118935C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 67630530,
          "referenceAllele": "C",
          "start": 67630529
        }
      ],
      "hgvs": [
        "NC_000017.9:g.67630530C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6775,
          "referenceAllele": "C",
          "start": 6774
        }
      ],
      "hgvs": [
        "NG_012490.1:g.6775C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002418"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011204",
      "geneNCBI_id": 6662,
      "geneSymbol": "SOX9",
      "hgvs": [
        "ENST00000245479.3:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245479.2:p.His169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245479.3:c.507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000346.4:c.507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245479.2:p.His169="
          },
          "RefSeq": {
            "hgvs": "NP_000337.1:p.His169="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011204",
      "geneNCBI_id": 6662,
      "geneSymbol": "SOX9",
      "hgvs": [
        "ENST00000245479.2:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245479.2:p.His169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144549",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011204",
      "geneNCBI_id": 6662,
      "geneSymbol": "SOX9",
      "hgvs": [
        "NM_000346.3:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000337.1:p.His169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144549",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011204",
      "geneNCBI_id": 6662,
      "geneSymbol": "SOX9",
      "hgvs": [
        "NM_000346.4:c.507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000337.1:p.His169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245479.3:c.507C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000346.4:c.507C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245479.2:p.His169="
          },
          "RefSeq": {
            "hgvs": "NP_000337.1:p.His169="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}