{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2189557600",
  "communityStandardTitle": [
    "NM_001013619.4(HYKK):c.337+256T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8034191",
        "rs": 8034191
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 78513681,
          "referenceAllele": "T",
          "start": 78513680
        }
      ],
      "hgvs": [
        "NC_000015.10:g.78513681T=",
        "CM000677.2:g.78513681T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 78806023,
          "referenceAllele": "T",
          "start": 78806022
        }
      ],
      "hgvs": [
        "NC_000015.9:g.78806023T=",
        "CM000677.1:g.78806023T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 76593078,
          "referenceAllele": "T",
          "start": 76593077
        }
      ],
      "hgvs": [
        "NC_000015.8:g.76593078T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000388988.9:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373640.4:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388988.9:c.337+256T="
          },
          "RefSeq": {
            "hgvs": "NM_001013619.4:c.337+256T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373640.4:n.337+256T="
          },
          "RefSeq": {
            "hgvs": "NP_001013641.2:n.337+256T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000388988.8:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373640.4:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000408962.6:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386197.2:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 337,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000563233.2:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454850.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000566289.5:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456614.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 397,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000566332.5:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457154.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 337,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "ENST00000569878.5:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455459.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "NM_001013619.2:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013641.2:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "NM_001083612.1:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001077081.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "XM_011521231.1:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519533.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "XR_243078.3:n.432+256T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "NM_001013619.3:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013641.2:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "NM_001013619.4:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001013641.2:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662923",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388988.9:c.337+256T="
          },
          "RefSeq": {
            "hgvs": "NM_001013619.4:c.337+256T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373640.4:n.337+256T="
          },
          "RefSeq": {
            "hgvs": "NP_001013641.2:n.337+256T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 256,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034403",
      "geneNCBI_id": 123688,
      "geneSymbol": "HYKK",
      "hgvs": [
        "NM_001083612.2:c.337+256T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001077081.1:n.337+256T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711867"
    }
  ],
  "type": "nucleotide"
}