{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254105",
  "communityStandardTitle": [
    "NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22141[alleleid]",
        "alleleId": 22141,
        "preferredName": "NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7102",
        "RCV": [
          "RCV000007520"
        ],
        "variationId": 7102
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13174098A>G?assembly=hg19",
        "id": "chr10:g.13174098A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13132098A>G?assembly=hg38",
        "id": "chr10:g.13132098A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606929",
        "rs": 267606929
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13132098-A-G?dataset=gnomad_r4",
        "id": "10-13132098-A-G",
        "variant": "10:13132098 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13132098,
          "referenceAllele": "A",
          "start": 13132097
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13132098A>G",
        "CM000672.2:g.13132098A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13174098,
          "referenceAllele": "A",
          "start": 13174097
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13174098A>G",
        "CM000672.1:g.13174098A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 13214104,
          "referenceAllele": "A",
          "start": 13214103
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13214104A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37017,
          "referenceAllele": "A",
          "start": 37016
        }
      ],
      "hgvs": [
        "NG_012876.1:g.37017A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.8:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Glu478Gly",
        "hgvsWellDefined": "ENSP00000368021.3:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.1433A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.1433A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Glu478Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Glu478Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2106,
          "referenceAllele": "A",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000263036.9:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263036.3:p.Glu478Gly",
        "hgvsWellDefined": "ENSP00000263036.3:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "A",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.7:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Glu478Gly",
        "hgvsWellDefined": "ENSP00000368021.3:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "A",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378748.7:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368022.3:p.Glu478Gly",
        "hgvsWellDefined": "ENSP00000368022.3:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378752.7:c.1415A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368027.3:p.Glu472Gly",
        "hgvsWellDefined": "ENSP00000368027.3:p.Glu472Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1578,
          "referenceAllele": "A",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378757.6:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368032.2:p.Glu478Gly",
        "hgvsWellDefined": "ENSP00000368032.2:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272190"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1934,
          "referenceAllele": "A",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378764.6:c.1415A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368040.1:p.Glu472Gly",
        "hgvsWellDefined": "ENSP00000368040.1:p.Glu472Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000469025.1:n.289A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254106",
      "coordinates": [
        {
          "allele": "G",
          "end": 1886,
          "referenceAllele": "A",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008211.1:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008212.1:p.Glu478Gly",
        "hgvsWellDefined": "NP_001008212.1:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290397",
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.1:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Glu478Gly",
        "hgvsWellDefined": "NP_001008213.1:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290654",
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "referenceAllele": "A",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008213.1:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008214.1:p.Glu478Gly",
        "hgvsWellDefined": "NP_001008214.1:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061672",
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_021980.4:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068815.2:p.Glu478Gly",
        "hgvsWellDefined": "NP_068815.2:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1654,
          "referenceAllele": "A",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252336.2:c.1415A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252393.2:p.Glu472Gly",
        "hgvsWellDefined": "XP_005252393.2:p.Glu472Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1819,
          "referenceAllele": "A",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252337.3:c.1415A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252394.2:p.Glu472Gly",
        "hgvsWellDefined": "XP_005252394.2:p.Glu472Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "A",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252338.2:c.1262A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Glu421Gly",
        "hgvsWellDefined": "XP_005252395.2:p.Glu421Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290397",
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "A",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.1433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Glu478Gly",
        "hgvsWellDefined": "NP_001008213.1:p.Glu478Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.1433A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.1433A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Glu478Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Glu478Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}