{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5410675",
  "communityStandardTitle": [
    "NM_001008212.2(OPTN):c.573A>G (p.Ser191=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320651[alleleid]",
        "alleleId": 320651,
        "preferredName": "NM_001008212.2(OPTN):c.573A>G (p.Ser191=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/299215",
        "RCV": [
          "RCV000267937",
          "RCV000323047"
        ],
        "variationId": 299215
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-13158287-A-G",
        "id": "10-13158287-A-G",
        "variant": "10:13158287 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13158287A>G?assembly=hg19",
        "id": "chr10:g.13158287A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13116287A>G?assembly=hg38",
        "id": "chr10:g.13116287A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773095721",
        "rs": 773095721
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13158287-A-G?dataset=gnomad_r2_1",
        "id": "10-13158287-A-G",
        "variant": "10:13158287 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13116287-A-G?dataset=gnomad_r4",
        "id": "10-13116287-A-G",
        "variant": "10:13116287 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13116287,
          "referenceAllele": "A",
          "start": 13116286
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13116287A>G",
        "CM000672.2:g.13116287A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13158287,
          "referenceAllele": "A",
          "start": 13158286
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13158287A>G",
        "CM000672.1:g.13158287A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13198293,
          "referenceAllele": "A",
          "start": 13198292
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13198293A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21206,
          "referenceAllele": "A",
          "start": 21205
        }
      ],
      "hgvs": [
        "NG_012876.1:g.21206A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.8:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.573A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.573A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Ser191="
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Ser191="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000263036.9:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263036.3:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.7:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378748.7:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368022.3:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378752.7:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368027.3:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378757.6:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368032.2:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272190"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378764.6:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368040.1:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20,
          "referenceAllele": "A",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000424614.1:c.20A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000430081.5:c.*478A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414747.2:n.*478A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000482140.5:c.*193A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484961.1:n.*193A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "A",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000486862.1:c.170A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "referenceAllele": "A",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008211.1:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008212.1:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290288",
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "A",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.1:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290542",
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008213.1:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008214.1:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829991420",
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_021980.4:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068815.2:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252336.2:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252393.2:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "A",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252337.3:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252394.2:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252338.2:c.402A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290288",
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.573A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Ser191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.573A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.573A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Ser191="
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Ser191="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}