{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6146437",
  "communityStandardTitle": [
    "NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=314921[alleleid]",
        "alleleId": 314921,
        "preferredName": "NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305767",
        "RCV": [
          "RCV000307867",
          "RCV000344135",
          "RCV000490220"
        ],
        "variationId": 305767
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-67800677-C-T",
        "id": "11-67800677-C-T",
        "variant": "11:67800677 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67800677C>T?assembly=hg19",
        "id": "chr11:g.67800677C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68033210C>T?assembly=hg38",
        "id": "chr11:g.68033210C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748754134",
        "rs": 748754134
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67800677-C-T?dataset=gnomad_r2_1",
        "id": "11-67800677-C-T",
        "variant": "11:67800677 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68033210-C-T?dataset=gnomad_r3",
        "id": "11-68033210-C-T",
        "variant": "11:68033210 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68033210-C-T?dataset=gnomad_r4",
        "id": "11-68033210-C-T",
        "variant": "11:68033210 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68033210,
          "referenceAllele": "C",
          "start": 68033209
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68033210C>T",
        "CM000673.2:g.68033210C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67800677,
          "referenceAllele": "C",
          "start": 67800676
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67800677C>T",
        "CM000673.1:g.67800677C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 67557253,
          "referenceAllele": "C",
          "start": 67557252
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67557253C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7594,
          "referenceAllele": "C",
          "start": 7593
        }
      ],
      "hgvs": [
        "NG_017040.1:g.7594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003382"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000313468.10:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315774.5:p.Ala100Val",
        "hgvsWellDefined": "ENSP00000315774.5:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313468.10:c.299C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002496.4:c.299C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315774.5:p.Ala100Val"
          },
          "RefSeq": {
            "hgvs": "NP_002487.1:p.Ala100Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000313468.9:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315774.5:p.Ala100Val",
        "hgvsWellDefined": "ENSP00000315774.5:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000432321.6:n.416C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000453471.6:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403972.2:p.Ala100Val",
        "hgvsWellDefined": "ENSP00000403972.2:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000524810.5:c.70C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000525419.5:c.245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433521.1:p.Ala82Val",
        "hgvsWellDefined": "ENSP00000433521.1:p.Ala82Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000525628.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432968.1:p.Ala100Val",
        "hgvsWellDefined": "ENSP00000432968.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000526339.5:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436287.1:p.Ala100Val",
        "hgvsWellDefined": "ENSP00000436287.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000526446.5:c.*354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433645.1:n.*354C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46,
          "endIntronDirection": "+",
          "endIntronOffset": 2477,
          "referenceAllele": "C",
          "start": 46,
          "startIntronDirection": "+",
          "startIntronOffset": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000528492.1:c.-67+2477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432848.1:n.-67+2477C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000529645.1:c.477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431293.1:n.477C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000531228.1:c.*141C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433054.1:n.*141C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "ENST00000532399.1:n.1004C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494791",
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "NM_002496.3:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002487.1:p.Ala100Val",
        "hgvsWellDefined": "NP_002487.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274013.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274070.1:p.Ala100Val",
        "hgvsWellDefined": "XP_005274070.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274014.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274071.1:p.Ala100Val",
        "hgvsWellDefined": "XP_005274071.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_005274015.1:c.179C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274072.1:p.Ala60Val",
        "hgvsWellDefined": "XP_005274072.1:p.Ala60Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "XM_011545053.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543355.1:p.Ala100Val",
        "hgvsWellDefined": "XP_011543355.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494791",
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007715",
      "geneNCBI_id": 4728,
      "geneSymbol": "NDUFS8",
      "hgvs": [
        "NM_002496.4:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002487.1:p.Ala100Val",
        "hgvsWellDefined": "NP_002487.1:p.Ala100Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313468.10:c.299C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002496.4:c.299C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315774.5:p.Ala100Val"
          },
          "RefSeq": {
            "hgvs": "NP_002487.1:p.Ala100Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}