{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1846118345",
  "communityStandardTitle": [
    "NM_001216.3(CA9):c.*100C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048638",
        "rs": 1048638
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35681125,
          "referenceAllele": "C",
          "start": 35681124
        }
      ],
      "hgvs": [
        "NC_000009.12:g.35681125C=",
        "CM000671.2:g.35681125C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35681122,
          "referenceAllele": "C",
          "start": 35681121
        }
      ],
      "hgvs": [
        "NC_000009.11:g.35681122C=",
        "CM000671.1:g.35681122C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 35671122,
          "referenceAllele": "C",
          "start": 35671121
        }
      ],
      "hgvs": [
        "NC_000009.10:g.35671122C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13933,
          "referenceAllele": "G",
          "start": 13932
        }
      ],
      "hgvs": [
        "NG_011620.1:g.13933G=",
        "LRG_680:g.13933G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "ENST00000378357.9:c.*100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367608.4:n.*100C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752071",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378357.9:c.*100C="
          },
          "RefSeq": {
            "hgvs": "NM_001216.3:c.*100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367608.4:n.*100C="
          },
          "RefSeq": {
            "hgvs": "NP_001207.2:n.*100C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "ENST00000378357.8:c.*100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367608.4:n.*100C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "ENST00000485665.1:n.295C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "ENST00000493245.1:n.684C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "ENST00000617161.1:c.*231C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482050.1:n.*231C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "NM_001216.2:c.*100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207.2:n.*100C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "XR_428428.2:n.1437C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "XR_001746374.2:n.1744C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "XR_428428.3:n.1512C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001383",
      "geneNCBI_id": 768,
      "geneSymbol": "CA9",
      "hgvs": [
        "NM_001216.3:c.*100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001207.2:n.*100C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664032",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378357.9:c.*100C="
          },
          "RefSeq": {
            "hgvs": "NM_001216.3:c.*100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367608.4:n.*100C="
          },
          "RefSeq": {
            "hgvs": "NP_001207.2:n.*100C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}