{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3900819",
  "communityStandardTitle": [
    "NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=304167[alleleid]",
        "alleleId": 304167,
        "preferredName": "NM_001122769.3(LCA5):c.1497A>G (p.Leu499=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358093",
        "RCV": [
          "RCV000388230",
          "RCV001471048"
        ],
        "variationId": 358093
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-80197318-T-C",
        "id": "6-80197318-T-C",
        "variant": "6:80197318 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80197318T>C?assembly=hg19",
        "id": "chr6:g.80197318T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.79487601T>C?assembly=hg38",
        "id": "chr6:g.79487601T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199557499",
        "rs": 199557499
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-80197318-T-C?dataset=gnomad_r2_1",
        "id": "6-80197318-T-C",
        "variant": "6:80197318 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-79487601-T-C?dataset=gnomad_r3",
        "id": "6-79487601-T-C",
        "variant": "6:79487601 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-79487601-T-C?dataset=gnomad_r4",
        "id": "6-79487601-T-C",
        "variant": "6:79487601 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 79487601,
          "referenceAllele": "T",
          "start": 79487600
        }
      ],
      "hgvs": [
        "NC_000006.12:g.79487601T>C",
        "CM000668.2:g.79487601T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 80197318,
          "referenceAllele": "T",
          "start": 80197317
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80197318T>C",
        "CM000668.1:g.80197318T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 80254037,
          "referenceAllele": "T",
          "start": 80254036
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80254037T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54830,
          "referenceAllele": "A",
          "start": 54829
        }
      ],
      "hgvs": [
        "NG_016011.1:g.54830A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002954"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000369846.9:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358861.4:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369846.9:c.1497A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001122769.3:c.1497A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358861.4:p.Leu499="
          },
          "RefSeq": {
            "hgvs": "NP_001116241.1:p.Leu499="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000369846.8:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358861.4:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "ENST00000392959.5:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376686.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825587077",
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_001122769.2:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116241.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830404261",
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_181714.3:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_859065.2:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "A",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_005248665.3:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248722.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "A",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_011535504.1:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533806.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 832
        }
      ],
      "hgvs": [
        "XR_942715.1:n.544-832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 832
        }
      ],
      "hgvs": [
        "XR_942716.1:n.506-832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 832
        }
      ],
      "hgvs": [
        "XR_942717.1:n.778-832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "A",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "XM_005248665.4:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248722.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2168,
          "endIntronDirection": "-",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 2168,
          "startIntronDirection": "-",
          "startIntronOffset": 832
        }
      ],
      "hgvs": [
        "XR_001744213.1:n.2169-832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "endIntronDirection": "-",
          "endIntronOffset": 831,
          "referenceAllele": "T",
          "start": 2130,
          "startIntronDirection": "-",
          "startIntronOffset": 832
        }
      ],
      "hgvs": [
        "XR_001744214.1:n.2131-832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825587077",
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_001122769.3:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116241.1:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369846.9:c.1497A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001122769.3:c.1497A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358861.4:p.Leu499="
          },
          "RefSeq": {
            "hgvs": "NP_001116241.1:p.Leu499="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830404261",
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031923",
      "geneNCBI_id": 167691,
      "geneSymbol": "LCA5",
      "hgvs": [
        "NM_181714.4:c.1497A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_859065.2:p.Leu499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701002"
    }
  ],
  "type": "nucleotide"
}