{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630835186",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.892A= (p.Thr298=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4961206",
        "rs": 4961206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 86654023,
          "referenceAllele": "T",
          "start": 86654022
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86654023T=",
        "CM000670.2:g.86654023T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87666251,
          "referenceAllele": "T",
          "start": 87666250
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87666251T=",
        "CM000670.1:g.87666251T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87735367,
          "referenceAllele": "T",
          "start": 87735366
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87735367T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94653,
          "referenceAllele": "A",
          "start": 94652
        }
      ],
      "hgvs": [
        "NG_016980.1:g.94653A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.892A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Thr298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.892A="
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.892A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Thr298="
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Thr298="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "A",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681546.1:n.712A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.892A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Thr298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.892A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Thr298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074689471",
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.892A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Thr298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.1:c.478A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:p.Thr160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.2:c.478A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:p.Thr160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074689471",
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "A",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.892A="
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Thr298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.892A="
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.892A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Thr298="
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Thr298="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}