{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3511341",
  "communityStandardTitle": [
    "NM_001371623.1(TCOF1):c.2926G>A (p.Ala976Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=247768",
        "active": true,
        "id": "COSM247768"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3332018[alleleid]",
        "alleleId": 3332018,
        "preferredName": "NM_001371623.1(TCOF1):c.2926G>A (p.Ala976Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3175320",
        "RCV": [
          "RCV004466649"
        ],
        "variationId": 3175320
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149767531-G-A",
        "id": "5-149767531-G-A",
        "variant": "5:149767531 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149767531G>A?assembly=hg19",
        "id": "chr5:g.149767531G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150387968G>A?assembly=hg38",
        "id": "chr5:g.150387968G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376523159",
        "rs": 376523159
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149767531-G-A?dataset=gnomad_r2_1",
        "id": "5-149767531-G-A",
        "variant": "5:149767531 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150387968-G-A?dataset=gnomad_r3",
        "id": "5-150387968-G-A",
        "variant": "5:150387968 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150387968-G-A?dataset=gnomad_r4",
        "id": "5-150387968-G-A",
        "variant": "5:150387968 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150387968,
          "referenceAllele": "G",
          "start": 150387967
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150387968G>A",
        "CM000667.2:g.150387968G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149767531,
          "referenceAllele": "G",
          "start": 149767530
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149767531G>A",
        "CM000667.1:g.149767531G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149747724,
          "referenceAllele": "G",
          "start": 149747723
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149747724G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35330,
          "referenceAllele": "G",
          "start": 35329
        }
      ],
      "hgvs": [
        "NG_011341.1:g.35330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001706"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2954,
          "referenceAllele": "G",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000427724.7:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390717.3:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000390717.3:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000643257.2:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493815.1:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000493815.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643257.2:c.2926G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371623.1:c.2926G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493815.1:p.Ala976Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001358552.1:p.Ala976Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2813,
          "referenceAllele": "G",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000650162.1:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497075.1:p.Ala899Thr",
        "hgvsWellDefined": "ENSP00000497075.1:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2325,
          "referenceAllele": "G",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000674413.1:c.2325G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2770,
          "referenceAllele": "G",
          "start": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000323668.11:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325223.6:p.Ala899Thr",
        "hgvsWellDefined": "ENSP00000325223.6:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "G",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000377797.7:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367028.4:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000367028.4:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2954,
          "referenceAllele": "G",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000427724.6:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390717.2:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000390717.2:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "G",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000439160.6:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406888.2:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000406888.2:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000445265.6:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409944.2:p.Ala899Thr",
        "hgvsWellDefined": "ENSP00000409944.2:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2926,
          "referenceAllele": "G",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000504761.6:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421655.2:p.Ala976Thr",
        "hgvsWellDefined": "ENSP00000421655.2:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000506767.1:c.360G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3037,
          "referenceAllele": "G",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000513346.5:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427484.1:p.Ala1013Thr",
        "hgvsWellDefined": "ENSP00000427484.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1726,
          "referenceAllele": "G",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000514442.5:n.1726G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "endIntronDirection": "-",
          "endIntronOffset": 8774,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "-",
          "startIntronOffset": 8775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000515516.1:c.343-8775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426471.1:n.343-8775G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825150000",
      "coordinates": [
        {
          "allele": "A",
          "end": 2803,
          "referenceAllele": "G",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_000356.3:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000347.2:p.Ala899Thr",
        "hgvsWellDefined": "NP_000347.2:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825790894",
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "G",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135243.1:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128715.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001128715.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791397",
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "G",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135244.1:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128716.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001128716.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791894",
      "coordinates": [
        {
          "allele": "A",
          "end": 2803,
          "referenceAllele": "G",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135245.1:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128717.1:p.Ala899Thr",
        "hgvsWellDefined": "NP_001128717.1:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826198135",
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "G",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001195141.1:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182070.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001182070.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "G",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268502.2:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268559.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268559.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3079,
          "referenceAllele": "G",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268503.2:c.3034G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268560.1:p.Ala1012Thr",
        "hgvsWellDefined": "XP_005268560.1:p.Ala1012Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "G",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268504.2:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268561.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268561.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268505.2:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268562.1:p.Ala976Thr",
        "hgvsWellDefined": "XP_005268562.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "G",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268506.2:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268563.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268563.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2851,
          "referenceAllele": "G",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268507.2:c.2806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268564.1:p.Ala936Thr",
        "hgvsWellDefined": "XP_005268564.1:p.Ala936Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2902,
          "referenceAllele": "G",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_011537678.1:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535980.1:p.Ala953Thr",
        "hgvsWellDefined": "XP_011535980.1:p.Ala953Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3041,
          "referenceAllele": "G",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427778.1:n.3041G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3041,
          "referenceAllele": "G",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427779.1:n.3041G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2930,
          "referenceAllele": "G",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427780.1:n.2930G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "G",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268502.4:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268559.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268559.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "G",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268503.4:c.3034G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268560.1:p.Ala1012Thr",
        "hgvsWellDefined": "XP_005268560.1:p.Ala1012Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "G",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268504.4:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268561.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268561.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2973,
          "referenceAllele": "G",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268505.4:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268562.1:p.Ala976Thr",
        "hgvsWellDefined": "XP_005268562.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "G",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268506.4:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268563.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_005268563.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268507.4:c.2806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268564.1:p.Ala936Thr",
        "hgvsWellDefined": "XP_005268564.1:p.Ala936Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2904,
          "referenceAllele": "G",
          "start": 2903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_011537678.3:c.2857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535980.1:p.Ala953Thr",
        "hgvsWellDefined": "XP_011535980.1:p.Ala953Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "G",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009792.2:c.3037G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865281.1:p.Ala1013Thr",
        "hgvsWellDefined": "XP_016865281.1:p.Ala1013Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009793.2:c.2746G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865282.1:p.Ala916Thr",
        "hgvsWellDefined": "XP_016865282.1:p.Ala916Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009794.2:c.2746G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865283.1:p.Ala916Thr",
        "hgvsWellDefined": "XP_016865283.1:p.Ala916Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3043,
          "referenceAllele": "G",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427778.3:n.3043G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3043,
          "referenceAllele": "G",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427779.2:n.3043G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2932,
          "referenceAllele": "G",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427780.3:n.2932G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825150000",
      "coordinates": [
        {
          "allele": "A",
          "end": 2745,
          "referenceAllele": "G",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_000356.4:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000347.2:p.Ala899Thr",
        "hgvsWellDefined": "NP_000347.2:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791397",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135244.2:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128716.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001128716.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791894",
      "coordinates": [
        {
          "allele": "A",
          "end": 2745,
          "referenceAllele": "G",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135245.2:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128717.1:p.Ala899Thr",
        "hgvsWellDefined": "NP_001128717.1:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826198135",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001195141.2:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182070.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001182070.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445734",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001371623.1:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358552.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001358552.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692996",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643257.2:c.2926G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371623.1:c.2926G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493815.1:p.Ala976Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001358552.1:p.Ala976Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825790894",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135243.2:c.2926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128715.1:p.Ala976Thr",
        "hgvsWellDefined": "NP_001128715.1:p.Ala976Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712433"
    }
  ],
  "type": "nucleotide"
}