{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1799893431",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.11C= (p.Ser4=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376711003",
        "rs": 376711003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 86743617,
          "referenceAllele": "G",
          "start": 86743616
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86743617G=",
        "CM000670.2:g.86743617G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 87755845,
          "referenceAllele": "G",
          "start": 87755844
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87755845G=",
        "CM000670.1:g.87755845G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 87824961,
          "referenceAllele": "G",
          "start": 87824960
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87824961G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5059,
          "referenceAllele": "C",
          "start": 5058
        }
      ],
      "hgvs": [
        "NG_016980.1:g.5059C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.11C="
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.11C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Ser4="
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Ser4="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829897119",
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "referenceAllele": "C",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829897119",
      "coordinates": [
        {
          "allele": "C",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.11C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Ser4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.11C="
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.11C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Ser4="
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Ser4="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}