{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5944171",
  "communityStandardTitle": [
    "NM_001752.4(CAT):c.-20T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN26725883"
      },
      {
        "active": false,
        "id": "COSN26730191"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=549658[alleleid]",
        "alleleId": 549658,
        "preferredName": "NM_001752.4(CAT):c.-20T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559060",
        "RCV": [
          "RCV000676054"
        ],
        "variationId": 559060
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-34460541-T-C",
        "id": "11-34460541-T-C",
        "variant": "11:34460541 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.34460541T>C?assembly=hg19",
        "id": "chr11:g.34460541T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.34438994T>C?assembly=hg38",
        "id": "chr11:g.34438994T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1049982",
        "rs": 1049982
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34460541-T-C?dataset=gnomad_r2_1",
        "id": "11-34460541-T-C",
        "variant": "11:34460541 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34438994-T-C?dataset=gnomad_r3",
        "id": "11-34438994-T-C",
        "variant": "11:34438994 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-34438994-T-C?dataset=gnomad_r4",
        "id": "11-34438994-T-C",
        "variant": "11:34438994 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 34438994,
          "referenceAllele": "T",
          "start": 34438993
        }
      ],
      "hgvs": [
        "NC_000011.10:g.34438994T>C",
        "CM000673.2:g.34438994T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 34460541,
          "referenceAllele": "T",
          "start": 34460540
        }
      ],
      "hgvs": [
        "NC_000011.9:g.34460541T>C",
        "CM000673.1:g.34460541T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 34417117,
          "referenceAllele": "T",
          "start": 34417116
        }
      ],
      "hgvs": [
        "NC_000011.8:g.34417117T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5070,
          "referenceAllele": "T",
          "start": 5069
        }
      ],
      "hgvs": [
        "NG_013339.1:g.5070T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5070,
          "referenceAllele": "T",
          "start": 5069
        }
      ],
      "hgvs": [
        "NG_013339.2:g.5070T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673640"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "referenceAllele": "T",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001516",
      "geneNCBI_id": 847,
      "geneSymbol": "CAT",
      "hgvs": [
        "ENST00000241052.5:c.-20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241052.4:n.-20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241052.5:c.-20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001752.4:c.-20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241052.4:n.-20T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001743.1:n.-20T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "T",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001516",
      "geneNCBI_id": 847,
      "geneSymbol": "CAT",
      "hgvs": [
        "ENST00000241052.4:c.-20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000241052.4:n.-20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "T",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001516",
      "geneNCBI_id": 847,
      "geneSymbol": "CAT",
      "hgvs": [
        "NM_001752.3:c.-20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001743.1:n.-20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61,
          "referenceAllele": "T",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001516",
      "geneNCBI_id": 847,
      "geneSymbol": "CAT",
      "hgvs": [
        "NM_001752.4:c.-20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001743.1:n.-20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000241052.5:c.-20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001752.4:c.-20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000241052.4:n.-20T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001743.1:n.-20T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}