{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1790167758",
  "communityStandardTitle": [
    "NC_000008.11:g.65711997A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10504390",
        "rs": 10504390
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 65711997,
          "referenceAllele": "A",
          "start": 65711996
        }
      ],
      "hgvs": [
        "NC_000008.11:g.65711997A=",
        "CM000670.2:g.65711997A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 66624232,
          "referenceAllele": "A",
          "start": 66624231
        }
      ],
      "hgvs": [
        "NC_000008.10:g.66624232A=",
        "CM000670.1:g.66624232A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 66786786,
          "referenceAllele": "A",
          "start": 66786785
        }
      ],
      "hgvs": [
        "NC_000008.9:g.66786786A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73125,
          "referenceAllele": "A",
          "start": 73124
        }
      ],
      "hgvs": [
        "NG_047112.1:g.73125A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000518352.1:n.205+3986A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000520398.1:n.122+3986A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 381,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000521247.6:c.381+3986A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429253.2:n.381+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000523158.5:n.155+3986A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000527155.5:c.373+3986A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_006716484.2:c.933+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716547.2:n.933+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1099,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517626.1:c.933+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515928.1:n.933+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517627.1:c.933+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515929.1:n.933+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517628.1:c.894+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515930.1:n.894+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1065,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517626.2:c.933+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515928.1:n.933+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517627.3:c.933+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515929.1:n.933+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "endIntronDirection": "+",
          "endIntronOffset": 3986,
          "referenceAllele": "A",
          "start": 1252,
          "startIntronDirection": "+",
          "startIntronOffset": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517628.2:c.894+3986A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515930.1:n.894+3986A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544620"
    }
  ],
  "type": "nucleotide"
}