{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA846367013",
  "communityStandardTitle": [
    "NC_000008.11:g.119032590G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.120044829G>C?assembly=hg19",
        "id": "chr8:g.120044829G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.119032590G>C?assembly=hg38",
        "id": "chr8:g.119032590G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6469804",
        "rs": 6469804
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 119032590,
          "referenceAllele": "G",
          "start": 119032589
        }
      ],
      "hgvs": [
        "NC_000008.11:g.119032590G>C",
        "CM000670.2:g.119032590G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 120044829,
          "referenceAllele": "G",
          "start": 120044828
        }
      ],
      "hgvs": [
        "NC_000008.10:g.120044829G>C",
        "CM000670.1:g.120044829G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 120114010,
          "referenceAllele": "G",
          "start": 120114009
        }
      ],
      "hgvs": [
        "NC_000008.9:g.120114010G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 23037,
          "referenceAllele": "G",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 23036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002220",
      "geneNCBI_id": 10584,
      "geneSymbol": "COLEC10",
      "hgvs": [
        "ENST00000521788.1:n.235+23037G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 139,
          "endIntronDirection": "-",
          "endIntronOffset": 57089,
          "referenceAllele": "G",
          "start": 139,
          "startIntronDirection": "-",
          "startIntronOffset": 57090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002220",
      "geneNCBI_id": 10584,
      "geneSymbol": "COLEC10",
      "hgvs": [
        "XM_005250756.2:c.-59-57090G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250813.1:n.-59-57090G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 4845,
          "referenceAllele": "G",
          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002220",
      "geneNCBI_id": 10584,
      "geneSymbol": "COLEC10",
      "hgvs": [
        "NM_001324095.1:c.-323-4846G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311024.1:n.-323-4846G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 57089,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 57090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002220",
      "geneNCBI_id": 10584,
      "geneSymbol": "COLEC10",
      "hgvs": [
        "XM_005250756.3:c.-59-57090G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250813.1:n.-59-57090G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 4845,
          "referenceAllele": "G",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002220",
      "geneNCBI_id": 10584,
      "geneSymbol": "COLEC10",
      "hgvs": [
        "NM_001324095.2:c.-323-4846G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311024.1:n.-323-4846G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686210"
    }
  ],
  "type": "nucleotide"
}