{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14367694",
  "communityStandardTitle": [
    "NC_000017.11:g.715725T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.618965T>C?assembly=hg19",
        "id": "chr17:g.618965T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.715725T>C?assembly=hg38",
        "id": "chr17:g.715725T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/684232",
        "rs": 684232
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-618965-T-C?dataset=gnomad_r2_1",
        "id": "17-618965-T-C",
        "variant": "17:618965 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-715725-T-C?dataset=gnomad_r3",
        "id": "17-715725-T-C",
        "variant": "17:715725 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-715725-T-C?dataset=gnomad_r4",
        "id": "17-715725-T-C",
        "variant": "17:715725 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 715725,
          "referenceAllele": "T",
          "start": 715724
        }
      ],
      "hgvs": [
        "NC_000017.11:g.715725T>C",
        "CM000679.2:g.715725T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 618965,
          "referenceAllele": "T",
          "start": 618964
        }
      ],
      "hgvs": [
        "NC_000017.10:g.618965T>C",
        "CM000679.1:g.618965T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 565715,
          "referenceAllele": "T",
          "start": 565714
        }
      ],
      "hgvs": [
        "NC_000017.9:g.565715T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4132,
          "referenceAllele": "A",
          "start": 4131
        }
      ],
      "hgvs": [
        "NG_034190.1:g.4132A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005793"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 5111,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025608",
      "geneNCBI_id": 55275,
      "geneSymbol": "VPS53",
      "hgvs": [
        "ENST00000680704.1:c.-282-5112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506453.1:n.-282-5112A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 5111,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025608",
      "geneNCBI_id": 55275,
      "geneSymbol": "VPS53",
      "hgvs": [
        "ENST00000576019.5:c.-282-5112A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461429.1:n.-282-5112A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384333"
    }
  ],
  "type": "nucleotide"
}