{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376028878",
  "communityStandardTitle": [
    "NM_001008212.2(OPTN):c.867G>T (p.Glu289Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13164472G>T?assembly=hg19",
        "id": "chr10:g.13164472G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13122472G>T?assembly=hg38",
        "id": "chr10:g.13122472G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13122472,
          "referenceAllele": "G",
          "start": 13122471
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13122472G>T",
        "CM000672.2:g.13122472G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13164472,
          "referenceAllele": "G",
          "start": 13164471
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13164472G>T",
        "CM000672.1:g.13164472G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13204478,
          "referenceAllele": "G",
          "start": 13204477
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13204478G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27391,
          "referenceAllele": "G",
          "start": 27390
        }
      ],
      "hgvs": [
        "NG_012876.1:g.27391G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.8:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Glu289Asp",
        "hgvsWellDefined": "ENSP00000368021.3:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.867G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.867G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Glu289Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Glu289Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "G",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000263036.9:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263036.3:p.Glu289Asp",
        "hgvsWellDefined": "ENSP00000263036.3:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378747.7:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368021.3:p.Glu289Asp",
        "hgvsWellDefined": "ENSP00000368021.3:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378748.7:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368022.3:p.Glu289Asp",
        "hgvsWellDefined": "ENSP00000368022.3:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378752.7:c.849G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368027.3:p.Glu283Asp",
        "hgvsWellDefined": "ENSP00000368027.3:p.Glu283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378757.6:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368032.2:p.Glu289Asp",
        "hgvsWellDefined": "ENSP00000368032.2:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000378764.6:c.849G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368040.1:p.Glu283Asp",
        "hgvsWellDefined": "ENSP00000368040.1:p.Glu283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "ENST00000424614.1:c.314G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288358"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290079",
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008211.1:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008212.1:p.Glu289Asp",
        "hgvsWellDefined": "NP_001008212.1:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.1:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Glu289Asp",
        "hgvsWellDefined": "NP_001008213.1:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290587",
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008213.1:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008214.1:p.Glu289Asp",
        "hgvsWellDefined": "NP_001008214.1:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748085",
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_021980.4:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068815.2:p.Glu289Asp",
        "hgvsWellDefined": "NP_068815.2:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252336.2:c.849G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252393.2:p.Glu283Asp",
        "hgvsWellDefined": "XP_005252393.2:p.Glu283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252337.3:c.849G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252394.2:p.Glu283Asp",
        "hgvsWellDefined": "XP_005252394.2:p.Glu283Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252338.2:c.696G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Glu232Asp",
        "hgvsWellDefined": "XP_005252395.2:p.Glu232Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.867G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Glu289Asp",
        "hgvsWellDefined": "NP_001008213.1:p.Glu289Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.867G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.867G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Glu289Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Glu289Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}