{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2140829079",
  "communityStandardTitle": [
    "NM_007374.3(SIX6):c.493A= (p.Thr165=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894480",
        "rs": 104894480
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 60509891,
          "referenceAllele": "A",
          "start": 60509890
        }
      ],
      "hgvs": [
        "NC_000014.9:g.60509891A=",
        "CM000676.2:g.60509891A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 60976609,
          "referenceAllele": "A",
          "start": 60976608
        }
      ],
      "hgvs": [
        "NC_000014.8:g.60976609A=",
        "CM000676.1:g.60976609A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 60046362,
          "referenceAllele": "A",
          "start": 60046361
        }
      ],
      "hgvs": [
        "NC_000014.7:g.60046362A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5672,
          "referenceAllele": "A",
          "start": 5671
        }
      ],
      "hgvs": [
        "NG_008203.1:g.5672A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000945"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "A",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010892",
      "geneNCBI_id": 4990,
      "geneSymbol": "SIX6",
      "hgvs": [
        "ENST00000327720.6:c.493A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328596.5:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746862",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327720.6:c.493A="
          },
          "RefSeq": {
            "hgvs": "NM_007374.3:c.493A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328596.5:p.Thr165="
          },
          "RefSeq": {
            "hgvs": "NP_031400.2:p.Thr165="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010892",
      "geneNCBI_id": 4990,
      "geneSymbol": "SIX6",
      "hgvs": [
        "ENST00000327720.5:c.493A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328596.5:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "endIntronDirection": "+",
          "endIntronOffset": 5504,
          "referenceAllele": "T",
          "start": 149,
          "startIntronDirection": "+",
          "startIntronOffset": 5503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019849",
      "geneNCBI_id": 317761,
      "geneSymbol": "C14orf39",
      "hgvs": [
        "ENST00000556799.1:c.-144+5504T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451441.1:n.-144+5504T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081108019",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010892",
      "geneNCBI_id": 4990,
      "geneSymbol": "SIX6",
      "hgvs": [
        "NM_007374.2:c.493A="
      ],
      "proteinEffect": {
        "hgvs": "NP_031400.2:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081108019",
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "A",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010892",
      "geneNCBI_id": 4990,
      "geneSymbol": "SIX6",
      "hgvs": [
        "NM_007374.3:c.493A="
      ],
      "proteinEffect": {
        "hgvs": "NP_031400.2:p.Thr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696981",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327720.6:c.493A="
          },
          "RefSeq": {
            "hgvs": "NM_007374.3:c.493A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328596.5:p.Thr165="
          },
          "RefSeq": {
            "hgvs": "NP_031400.2:p.Thr165="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}