{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5123251",
  "communityStandardTitle": [
    "NM_017948.6(NOL8):c.3061G>A (p.Gly1021Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3982955",
        "active": true,
        "id": "COSM3982955"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3982956",
        "active": true,
        "id": "COSM3982956"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-95063947-C-T",
        "id": "9-95063947-C-T",
        "variant": "9:95063947 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95063947C>T?assembly=hg19",
        "id": "chr9:g.95063947C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.92301665C>T?assembly=hg38",
        "id": "chr9:g.92301665C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/921122",
        "rs": 921122
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95063947-C-T?dataset=gnomad_r2_1",
        "id": "9-95063947-C-T",
        "variant": "9:95063947 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-92301665-C-T?dataset=gnomad_r3",
        "id": "9-92301665-C-T",
        "variant": "9:92301665 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-92301665-C-T?dataset=gnomad_r4",
        "id": "9-92301665-C-T",
        "variant": "9:92301665 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 92301665,
          "referenceAllele": "C",
          "start": 92301664
        }
      ],
      "hgvs": [
        "NC_000009.12:g.92301665C>T",
        "CM000671.2:g.92301665C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95063947,
          "referenceAllele": "C",
          "start": 95063946
        }
      ],
      "hgvs": [
        "NC_000009.11:g.95063947C>T",
        "CM000671.1:g.95063947C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 94103768,
          "referenceAllele": "C",
          "start": 94103767
        }
      ],
      "hgvs": [
        "NC_000009.10:g.94103768C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "referenceAllele": "G",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000442668.7:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401177.2:p.Gly1021Ser",
        "hgvsWellDefined": "ENSP00000401177.2:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442668.7:c.3061G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017948.6:c.3061G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401177.2:p.Gly1021Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060418.4:p.Gly1021Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000358855.8:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351723.4:p.Gly953Ser",
        "hgvsWellDefined": "ENSP00000351723.4:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "referenceAllele": "G",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000360868.7:c.*2916G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354115.3:n.*2916G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000442668.6:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401177.2:p.Gly1021Ser",
        "hgvsWellDefined": "ENSP00000401177.2:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000477862.1:n.421G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2947,
          "referenceAllele": "G",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000535387.5:c.2947G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441300.1:p.Gly983Ser",
        "hgvsWellDefined": "ENSP00000441300.1:p.Gly983Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3258,
          "referenceAllele": "G",
          "start": 3257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000536593.5:c.*2916G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446265.1:n.*2916G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2950,
          "referenceAllele": "G",
          "start": 2949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000542053.5:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440709.1:p.Gly953Ser",
        "hgvsWellDefined": "ENSP00000440709.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3142,
          "referenceAllele": "G",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000544867.5:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439751.1:p.Gly1021Ser",
        "hgvsWellDefined": "ENSP00000439751.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000545444.5:c.*591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439829.1:n.*591G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "ENST00000545558.5:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441140.1:p.Gly1021Ser",
        "hgvsWellDefined": "ENSP00000441140.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_001256394.1:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243323.1:p.Gly953Ser",
        "hgvsWellDefined": "NP_001243323.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075609069",
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_017948.5:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060418.4:p.Gly1021Ser",
        "hgvsWellDefined": "NP_060418.4:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NR_046106.1:n.3398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717166.2:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717229.1:p.Gly1021Ser",
        "hgvsWellDefined": "XP_006717229.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3786,
          "referenceAllele": "G",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717167.2:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717230.1:p.Gly1021Ser",
        "hgvsWellDefined": "XP_006717230.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717168.2:c.2947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717231.1:p.Gly983Ser",
        "hgvsWellDefined": "XP_006717231.1:p.Gly983Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4040,
          "referenceAllele": "G",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717169.2:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717232.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_006717232.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717170.2:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717233.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_006717233.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4238,
          "referenceAllele": "G",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717172.2:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717235.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_006717235.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717173.2:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717236.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_006717236.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3611,
          "referenceAllele": "G",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518824.1:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517126.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_011517126.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3727,
          "referenceAllele": "G",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518825.1:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517127.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_011517127.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "G",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518826.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517128.1:p.Gly1021Ser",
        "hgvsWellDefined": "XP_011517128.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518827.1:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517129.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_011517129.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "G",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518828.1:c.2458G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517130.1:p.Gly820Ser",
        "hgvsWellDefined": "XP_011517130.1:p.Gly820Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3284,
          "referenceAllele": "G",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_001330722.1:c.2947G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317651.1:p.Gly983Ser",
        "hgvsWellDefined": "NP_001317651.1:p.Gly983Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717166.4:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717229.1:p.Gly1021Ser",
        "hgvsWellDefined": "XP_006717229.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3386,
          "referenceAllele": "G",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717167.3:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717230.1:p.Gly1021Ser",
        "hgvsWellDefined": "XP_006717230.1:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4040,
          "referenceAllele": "G",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717169.4:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717232.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_006717232.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3914,
          "referenceAllele": "G",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717170.4:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717233.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_006717233.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4238,
          "referenceAllele": "G",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717172.4:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717235.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_006717235.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_006717173.4:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717236.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_006717236.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3611,
          "referenceAllele": "G",
          "start": 3610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518824.3:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517126.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_011517126.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3026,
          "referenceAllele": "G",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_011518827.2:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517129.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_011517129.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3810,
          "referenceAllele": "G",
          "start": 3809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_017014876.2:c.2947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870365.1:p.Gly983Ser",
        "hgvsWellDefined": "XP_016870365.1:p.Gly983Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_017014877.2:c.2743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870366.1:p.Gly915Ser",
        "hgvsWellDefined": "XP_016870366.1:p.Gly915Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4364,
          "referenceAllele": "G",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_017014878.2:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870367.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_016870367.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3564,
          "referenceAllele": "G",
          "start": 3563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_017014879.1:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870368.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_016870368.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_017014880.2:c.2569G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870369.1:p.Gly857Ser",
        "hgvsWellDefined": "XP_016870369.1:p.Gly857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3727,
          "referenceAllele": "G",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_024447594.1:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303362.1:p.Gly953Ser",
        "hgvsWellDefined": "XP_024303362.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5523,
          "referenceAllele": "G",
          "start": 5522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XM_024447595.1:c.2683G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303363.1:p.Gly895Ser",
        "hgvsWellDefined": "XP_024303363.1:p.Gly895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "G",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XR_001746333.2:n.3162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3289,
          "referenceAllele": "G",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "XR_001746334.2:n.3289G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075609069",
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "referenceAllele": "G",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_017948.6:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060418.4:p.Gly1021Ser",
        "hgvsWellDefined": "NP_060418.4:p.Gly1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442668.7:c.3061G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017948.6:c.3061G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000401177.2:p.Gly1021Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060418.4:p.Gly1021Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3258,
          "referenceAllele": "G",
          "start": 3257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_001256394.2:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243323.1:p.Gly953Ser",
        "hgvsWellDefined": "NP_001243323.1:p.Gly953Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3040,
          "referenceAllele": "G",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NM_001330722.2:c.2947G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317651.1:p.Gly983Ser",
        "hgvsWellDefined": "NP_001317651.1:p.Gly983Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3154,
          "referenceAllele": "G",
          "start": 3153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023387",
      "geneNCBI_id": 55035,
      "geneSymbol": "NOL8",
      "hgvs": [
        "NR_046106.2:n.3154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730417"
    }
  ],
  "type": "nucleotide"
}