{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406632159",
  "communityStandardTitle": [
    "NM_000554.6(CRX):c.897G>T (p.Leu299Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.48343221G>T?assembly=hg19",
        "id": "chr19:g.48343221G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47839964G>T?assembly=hg38",
        "id": "chr19:g.47839964G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47839964,
          "referenceAllele": "G",
          "start": 47839963
        }
      ],
      "hgvs": [
        "NC_000019.10:g.47839964G>T",
        "CM000681.2:g.47839964G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 48343221,
          "referenceAllele": "G",
          "start": 48343220
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48343221G>T",
        "CM000681.1:g.48343221G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 53035033,
          "referenceAllele": "G",
          "start": 53035032
        }
      ],
      "hgvs": [
        "NC_000019.8:g.53035033G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23123,
          "referenceAllele": "G",
          "start": 23122
        }
      ],
      "hgvs": [
        "NG_008605.1:g.23123G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001125"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000221996.12:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221996.5:p.Leu299Phe",
        "hgvsWellDefined": "ENSP00000221996.5:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221996.12:c.897G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000554.6:c.897G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221996.5:p.Leu299Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000545.1:p.Leu299Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000221996.11:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221996.5:p.Leu299Phe",
        "hgvsWellDefined": "ENSP00000221996.5:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000539067.5:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445565.1:p.Leu299Phe",
        "hgvsWellDefined": "ENSP00000445565.1:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "G",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "ENST00000613299.1:c.*619G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478106.1:n.*619G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270030",
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.4:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Leu299Phe",
        "hgvsWellDefined": "NP_000545.1:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270030",
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.5:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Leu299Phe",
        "hgvsWellDefined": "NP_000545.1:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270030",
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002383",
      "geneNCBI_id": 1406,
      "geneSymbol": "CRX",
      "hgvs": [
        "NM_000554.6:c.897G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000545.1:p.Leu299Phe",
        "hgvsWellDefined": "NP_000545.1:p.Leu299Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221996.12:c.897G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000554.6:c.897G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221996.5:p.Leu299Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000545.1:p.Leu299Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}