{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6146555",
  "communityStandardTitle": [
    "NM_002496.4(NDUFS8):c.502-13C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327807[alleleid]",
        "alleleId": 327807,
        "preferredName": "NM_002496.4(NDUFS8):c.502-13C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305770",
        "RCV": [
          "RCV000314847",
          "RCV000369510",
          "RCV000427186",
          "RCV002056234"
        ],
        "variationId": 305770
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-67803916-C-T",
        "id": "11-67803916-C-T",
        "variant": "11:67803916 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67803916C>T?assembly=hg19",
        "id": "chr11:g.67803916C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68036449C>T?assembly=hg38",
        "id": "chr11:g.68036449C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199793417",
        "rs": 199793417
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67803916-C-T?dataset=gnomad_r2_1",
        "id": "11-67803916-C-T",
        "variant": "11:67803916 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68036449-C-T?dataset=gnomad_r3",
        "id": "11-68036449-C-T",
        "variant": "11:68036449 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68036449-C-T?dataset=gnomad_r4",
        "id": "11-68036449-C-T",
        "variant": "11:68036449 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68036449,
          "referenceAllele": "C",
          "start": 68036448
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68036449C>T",
        "CM000673.2:g.68036449C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67803916,
          "referenceAllele": "C",
          "start": 67803915
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67803916C>T",
        "CM000673.1:g.67803916C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67560492,
          "referenceAllele": "C",
          "start": 67560491
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67560492C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "hgvs": [
        "NG_007878.1:g.2434C>T",
        "LRG_115:g.2434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10833,
          "referenceAllele": "C",
          "start": 10832
        }
      ],
      "hgvs": [
        "NG_017040.1:g.10833C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003382"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000313468.10:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315774.5:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313468.10:c.502-13C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002496.4:c.502-13C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315774.5:n.502-13C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002487.1:n.502-13C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 608,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000313468.9:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315774.5:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000524810.5:c.434-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000526339.5:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436287.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000526446.5:c.*557-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433645.1:n.*557-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000528492.1:c.64-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432848.1:n.64-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 353,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000531282.1:n.354-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "NM_002496.3:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002487.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 715,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274013.1:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274070.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 702,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274014.1:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274071.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 734,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274015.1:c.382-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274072.1:n.382-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 642,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_011545053.1:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543355.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "NM_002496.4:c.502-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002487.1:n.502-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313468.10:c.502-13C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002496.4:c.502-13C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315774.5:n.502-13C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002487.1:n.502-13C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}