{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13321041",
  "communityStandardTitle": [
    "NC_000010.11:g.55089225A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.56848985A>C?assembly=hg19",
        "id": "chr10:g.56848985A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.55089225A>C?assembly=hg38",
        "id": "chr10:g.55089225A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16906916",
        "rs": 16906916
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-56848985-A-C?dataset=gnomad_r2_1",
        "id": "10-56848985-A-C",
        "variant": "10:56848985 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-55089225-A-C?dataset=gnomad_r3",
        "id": "10-55089225-A-C",
        "variant": "10:55089225 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-55089225-A-C?dataset=gnomad_r4",
        "id": "10-55089225-A-C",
        "variant": "10:55089225 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 55089225,
          "referenceAllele": "A",
          "start": 55089224
        }
      ],
      "hgvs": [
        "NC_000010.11:g.55089225A>C",
        "CM000672.2:g.55089225A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 56848985,
          "referenceAllele": "A",
          "start": 56848984
        }
      ],
      "hgvs": [
        "NC_000010.10:g.56848985A>C",
        "CM000672.1:g.56848985A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 56518991,
          "referenceAllele": "A",
          "start": 56518990
        }
      ],
      "hgvs": [
        "NC_000010.9:g.56518991A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544958,
          "referenceAllele": "T",
          "start": 544957
        }
      ],
      "hgvs": [
        "NG_009191.3:g.544958T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "endIntronDirection": "+",
          "endIntronOffset": 77351,
          "referenceAllele": "T",
          "start": 92,
          "startIntronDirection": "+",
          "startIntronOffset": 77350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000458638.1:c.-80+77351T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394465.1:n.-80+77351T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "+",
          "endIntronOffset": 77351,
          "referenceAllele": "T",
          "start": 283,
          "startIntronDirection": "+",
          "startIntronOffset": 77350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613346.4:c.-80+77351T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481211.1:n.-80+77351T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "+",
          "endIntronOffset": 77351,
          "referenceAllele": "T",
          "start": 283,
          "startIntronDirection": "+",
          "startIntronOffset": 77350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.1:c.-80+77351T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:n.-80+77351T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3621,
          "endIntronDirection": "+",
          "endIntronOffset": 77351,
          "referenceAllele": "T",
          "start": 3621,
          "startIntronDirection": "+",
          "startIntronOffset": 77350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XM_017016573.2:c.-157+77351T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872062.1:n.-157+77351T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "+",
          "endIntronOffset": 77351,
          "referenceAllele": "T",
          "start": 283,
          "startIntronDirection": "+",
          "startIntronOffset": 77350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.2:c.-80+77351T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:n.-80+77351T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720458"
    }
  ],
  "type": "nucleotide"
}