{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3511503",
  "communityStandardTitle": [
    "NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=251825[alleleid]",
        "alleleId": 251825,
        "preferredName": "NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257552",
        "RCV": [
          "RCV000252237",
          "RCV000983903",
          "RCV001494269"
        ],
        "variationId": 257552
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149771715-G-C",
        "id": "5-149771715-G-C",
        "variant": "5:149771715 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149771715G>C?assembly=hg19",
        "id": "chr5:g.149771715G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150392152G>C?assembly=hg38",
        "id": "chr5:g.150392152G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141095369",
        "rs": 141095369
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149771715-G-C?dataset=gnomad_r2_1",
        "id": "5-149771715-G-C",
        "variant": "5:149771715 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150392152-G-C?dataset=gnomad_r3",
        "id": "5-150392152-G-C",
        "variant": "5:150392152 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150392152-G-C?dataset=gnomad_r4",
        "id": "5-150392152-G-C",
        "variant": "5:150392152 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150392152,
          "referenceAllele": "G",
          "start": 150392151
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150392152G>C",
        "CM000667.2:g.150392152G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149771715,
          "referenceAllele": "G",
          "start": 149771714
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149771715G>C",
        "CM000667.1:g.149771715G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149751908,
          "referenceAllele": "G",
          "start": 149751907
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149751908G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39514,
          "referenceAllele": "G",
          "start": 39513
        }
      ],
      "hgvs": [
        "NG_011341.1:g.39514G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001706"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3407,
          "referenceAllele": "G",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000427724.7:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390717.3:p.Gly1127Arg",
        "hgvsWellDefined": "ENSP00000390717.3:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "referenceAllele": "G",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000643257.2:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493815.1:p.Gly1165Arg",
        "hgvsWellDefined": "ENSP00000493815.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767180",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643257.2:c.3493G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001371623.1:c.3493G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493815.1:p.Gly1165Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001358552.1:p.Gly1165Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3266,
          "referenceAllele": "G",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000650162.1:c.3148G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497075.1:p.Gly1050Arg",
        "hgvsWellDefined": "ENSP00000497075.1:p.Gly1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000674413.1:c.2892G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3337,
          "referenceAllele": "G",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000323668.11:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325223.6:p.Gly1088Arg",
        "hgvsWellDefined": "ENSP00000325223.6:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000377797.7:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367028.4:p.Gly1165Arg",
        "hgvsWellDefined": "ENSP00000367028.4:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3407,
          "referenceAllele": "G",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000427724.6:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390717.2:p.Gly1127Arg",
        "hgvsWellDefined": "ENSP00000390717.2:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000439160.6:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406888.2:p.Gly1127Arg",
        "hgvsWellDefined": "ENSP00000406888.2:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3343,
          "referenceAllele": "G",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000445265.6:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409944.2:p.Gly1088Arg",
        "hgvsWellDefined": "ENSP00000409944.2:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000504761.6:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421655.2:p.Gly1165Arg",
        "hgvsWellDefined": "ENSP00000421655.2:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000506630.1:n.686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000513346.5:c.3490G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427484.1:p.Gly1164Arg",
        "hgvsWellDefined": "ENSP00000427484.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2431,
          "referenceAllele": "G",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000514442.5:n.2431G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "endIntronDirection": "-",
          "endIntronOffset": 4590,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "-",
          "startIntronOffset": 4591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "ENST00000515516.1:c.343-4591G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426471.1:n.343-4591G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825150070",
      "coordinates": [
        {
          "allele": "C",
          "end": 3370,
          "referenceAllele": "G",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_000356.3:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000347.2:p.Gly1088Arg",
        "hgvsWellDefined": "NP_000347.2:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479234",
      "coordinates": [
        {
          "allele": "C",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135243.1:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128715.1:p.Gly1165Arg",
        "hgvsWellDefined": "NP_001128715.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791447",
      "coordinates": [
        {
          "allele": "C",
          "end": 3487,
          "referenceAllele": "G",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135244.1:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128716.1:p.Gly1127Arg",
        "hgvsWellDefined": "NP_001128716.1:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791931",
      "coordinates": [
        {
          "allele": "C",
          "end": 3370,
          "referenceAllele": "G",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135245.1:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128717.1:p.Gly1088Arg",
        "hgvsWellDefined": "NP_001128717.1:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826198184",
      "coordinates": [
        {
          "allele": "C",
          "end": 3487,
          "referenceAllele": "G",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001195141.1:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182070.1:p.Gly1127Arg",
        "hgvsWellDefined": "NP_001182070.1:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3649,
          "referenceAllele": "G",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268502.2:c.3604G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268559.1:p.Gly1202Arg",
        "hgvsWellDefined": "XP_005268559.1:p.Gly1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3646,
          "referenceAllele": "G",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268503.2:c.3601G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268560.1:p.Gly1201Arg",
        "hgvsWellDefined": "XP_005268560.1:p.Gly1201Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3649,
          "referenceAllele": "G",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268504.2:c.3604G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268561.1:p.Gly1202Arg",
        "hgvsWellDefined": "XP_005268561.1:p.Gly1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3538,
          "referenceAllele": "G",
          "start": 3537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268505.2:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268562.1:p.Gly1165Arg",
        "hgvsWellDefined": "XP_005268562.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3535,
          "referenceAllele": "G",
          "start": 3534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268506.2:c.3490G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268563.1:p.Gly1164Arg",
        "hgvsWellDefined": "XP_005268563.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3418,
          "referenceAllele": "G",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268507.2:c.3373G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268564.1:p.Gly1125Arg",
        "hgvsWellDefined": "XP_005268564.1:p.Gly1125Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3469,
          "referenceAllele": "G",
          "start": 3468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_011537678.1:c.3424G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535980.1:p.Gly1142Arg",
        "hgvsWellDefined": "XP_011535980.1:p.Gly1142Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3608,
          "referenceAllele": "G",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427778.1:n.3608G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3494,
          "referenceAllele": "G",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427779.1:n.3494G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427780.1:n.3497G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268502.4:c.3604G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268559.1:p.Gly1202Arg",
        "hgvsWellDefined": "XP_005268559.1:p.Gly1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3648,
          "referenceAllele": "G",
          "start": 3647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268503.4:c.3601G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268560.1:p.Gly1201Arg",
        "hgvsWellDefined": "XP_005268560.1:p.Gly1201Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268504.4:c.3604G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268561.1:p.Gly1202Arg",
        "hgvsWellDefined": "XP_005268561.1:p.Gly1202Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268505.4:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268562.1:p.Gly1165Arg",
        "hgvsWellDefined": "XP_005268562.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268506.4:c.3490G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268563.1:p.Gly1164Arg",
        "hgvsWellDefined": "XP_005268563.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_005268507.4:c.3373G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268564.1:p.Gly1125Arg",
        "hgvsWellDefined": "XP_005268564.1:p.Gly1125Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3471,
          "referenceAllele": "G",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_011537678.3:c.3424G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535980.1:p.Gly1142Arg",
        "hgvsWellDefined": "XP_011535980.1:p.Gly1142Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009792.2:c.3490G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865281.1:p.Gly1164Arg",
        "hgvsWellDefined": "XP_016865281.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009793.2:c.3313G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865282.1:p.Gly1105Arg",
        "hgvsWellDefined": "XP_016865282.1:p.Gly1105Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3246,
          "referenceAllele": "G",
          "start": 3245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XM_017009794.2:c.3199G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865283.1:p.Gly1067Arg",
        "hgvsWellDefined": "XP_016865283.1:p.Gly1067Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3610,
          "referenceAllele": "G",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427778.3:n.3610G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3496,
          "referenceAllele": "G",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427779.2:n.3496G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "XR_427780.3:n.3499G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825150070",
      "coordinates": [
        {
          "allele": "C",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_000356.4:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000347.2:p.Gly1088Arg",
        "hgvsWellDefined": "NP_000347.2:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791447",
      "coordinates": [
        {
          "allele": "C",
          "end": 3429,
          "referenceAllele": "G",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135244.2:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128716.1:p.Gly1127Arg",
        "hgvsWellDefined": "NP_001128716.1:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791931",
      "coordinates": [
        {
          "allele": "C",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135245.2:c.3262G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128717.1:p.Gly1088Arg",
        "hgvsWellDefined": "NP_001128717.1:p.Gly1088Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826198184",
      "coordinates": [
        {
          "allele": "C",
          "end": 3429,
          "referenceAllele": "G",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001195141.2:c.3379G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182070.1:p.Gly1127Arg",
        "hgvsWellDefined": "NP_001182070.1:p.Gly1127Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072477",
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "referenceAllele": "G",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001371623.1:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358552.1:p.Gly1165Arg",
        "hgvsWellDefined": "NP_001358552.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692996",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643257.2:c.3493G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001371623.1:c.3493G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493815.1:p.Gly1165Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001358552.1:p.Gly1165Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479234",
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "referenceAllele": "G",
          "start": 3542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135243.2:c.3493G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128715.1:p.Gly1165Arg",
        "hgvsWellDefined": "NP_001128715.1:p.Gly1165Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712433"
    }
  ],
  "type": "nucleotide"
}