{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347833862",
  "communityStandardTitle": [
    "NM_001298.3(CNGA3):c.1585G>T (p.Val529Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=722741",
        "active": true,
        "id": "COSM722741"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.99013218G>T?assembly=hg19",
        "id": "chr2:g.99013218G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.98396755G>T?assembly=hg38",
        "id": "chr2:g.98396755G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 98396755,
          "referenceAllele": "G",
          "start": 98396754
        }
      ],
      "hgvs": [
        "NC_000002.12:g.98396755G>T",
        "CM000664.2:g.98396755G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 99013218,
          "referenceAllele": "G",
          "start": 99013217
        }
      ],
      "hgvs": [
        "NC_000002.11:g.99013218G>T",
        "CM000664.1:g.99013218G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 98379650,
          "referenceAllele": "G",
          "start": 98379649
        }
      ],
      "hgvs": [
        "NC_000002.10:g.98379650G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55601,
          "referenceAllele": "G",
          "start": 55600
        }
      ],
      "hgvs": [
        "NG_009097.1:g.55601G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001430"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.7:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Val529Leu",
        "hgvsWellDefined": "ENSP00000272602.2:p.Val529Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.1585G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.1585G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Val529Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Val529Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.6:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Val529Leu",
        "hgvsWellDefined": "ENSP00000272602.2:p.Val529Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000393504.5:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377140.1:p.Val529Leu",
        "hgvsWellDefined": "ENSP00000377140.1:p.Val529Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000409937.1:c.1597G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386761.1:p.Val533Leu",
        "hgvsWellDefined": "ENSP00000386761.1:p.Val533Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000436404.6:c.1531G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410070.2:p.Val511Leu",
        "hgvsWellDefined": "ENSP00000410070.2:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.1:c.1531G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Val511Leu",
        "hgvsWellDefined": "NP_001073347.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057546844",
      "coordinates": [
        {
          "allele": "T",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.2:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Val529Leu",
        "hgvsWellDefined": "NP_001289.1:p.Val529Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_006712243.2:c.1696G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712306.1:p.Val566Leu",
        "hgvsWellDefined": "XP_006712306.1:p.Val566Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "G",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.1:c.1750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Val584Leu",
        "hgvsWellDefined": "XP_011508856.1:p.Val584Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "G",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.2:c.1750G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Val584Leu",
        "hgvsWellDefined": "XP_011508856.1:p.Val584Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.2:c.1531G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Val511Leu",
        "hgvsWellDefined": "NP_001073347.1:p.Val511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057546844",
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.3:c.1585G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Val529Leu",
        "hgvsWellDefined": "NP_001289.1:p.Val529Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.1585G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.1585G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Val529Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Val529Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}