{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1543608743",
  "communityStandardTitle": [
    "NM_021072.4(HCN1):c.1618+17983T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/981782",
        "rs": 981782
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 45285616,
          "referenceAllele": "A",
          "start": 45285615
        }
      ],
      "hgvs": [
        "NC_000005.10:g.45285616A=",
        "CM000667.2:g.45285616A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 45285718,
          "referenceAllele": "A",
          "start": 45285717
        }
      ],
      "hgvs": [
        "NC_000005.9:g.45285718A=",
        "CM000667.1:g.45285718A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 45321475,
          "referenceAllele": "A",
          "start": 45321474
        }
      ],
      "hgvs": [
        "NC_000005.8:g.45321475A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415503,
          "referenceAllele": "T",
          "start": 415502
        }
      ],
      "hgvs": [
        "NG_042183.1:g.415503T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000303230.6:c.1618+17983T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307342.4:n.1618+17983T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303230.6:c.1618+17983T="
          },
          "RefSeq": {
            "hgvs": "NM_021072.4:c.1618+17983T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307342.4:n.1618+17983T="
          },
          "RefSeq": {
            "hgvs": "NP_066550.2:n.1618+17983T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000637305.1:n.781+17983T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000673735.1:c.1618+17983T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501107.1:n.1618+17983T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1859,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 1859,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000303230.5:c.1618+17983T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307342.4:n.1618+17983T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 1643,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "NM_021072.3:c.1618+17983T="
      ],
      "proteinEffect": {
        "hgvs": "NP_066550.2:n.1618+17983T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17983,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "NM_021072.4:c.1618+17983T="
      ],
      "proteinEffect": {
        "hgvs": "NP_066550.2:n.1618+17983T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303230.6:c.1618+17983T="
          },
          "RefSeq": {
            "hgvs": "NM_021072.4:c.1618+17983T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307342.4:n.1618+17983T="
          },
          "RefSeq": {
            "hgvs": "NP_066550.2:n.1618+17983T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}