{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2339607347",
  "communityStandardTitle": [
    "NM_000554.6(CRX):c.121C= (p.Arg41=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894672",
        "rs": 104894672
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 47836263,
          "referenceAllele": "C",
          "start": 47836262
        }
      ],
      "hgvs": [
        "NC_000019.10:g.47836263C=",
        "CM000681.2:g.47836263C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 48339520,
          "referenceAllele": "C",
          "start": 48339519
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48339520C=",
        "CM000681.1:g.48339520C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 53031332,
          "referenceAllele": "C",
          "start": 53031331
        }
      ],
      "hgvs": [
        "NC_000019.8:g.53031332C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19422,
          "referenceAllele": "C",
          "start": 19421
        }
      ],
      "hgvs": [
        "NG_008605.1:g.19422C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001125"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000221996.12:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221996.5:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221996.12:c.121C="
          },
          "RefSeq": {
            "hgvs": "NM_000554.6:c.121C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221996.5:p.Arg41="
          },
          "RefSeq": {
            "hgvs": "NP_000545.1:p.Arg41="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000221996.11:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221996.5:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000539067.5:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445565.1:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000556527.1:n.98C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000566686.5:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457808.2:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 1720,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000613299.1:c.100+1720C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478106.1:n.100+1720C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825195796",
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.4:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825195796",
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.5:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825195796",
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.6:c.121C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Arg41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221996.12:c.121C="
          },
          "RefSeq": {
            "hgvs": "NM_000554.6:c.121C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221996.5:p.Arg41="
          },
          "RefSeq": {
            "hgvs": "NP_000545.1:p.Arg41="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}