{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4881072",
  "communityStandardTitle": [
    "NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253032[alleleid]",
        "alleleId": 253032,
        "preferredName": "NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260273",
        "RCV": [
          "RCV000243911",
          "RCV001085911",
          "RCV000767176",
          "RCV001823000",
          "RCV002461049"
        ],
        "variationId": 260273
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-133584564-G-A",
        "id": "8-133584564-G-A",
        "variant": "8:133584564 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.133584564G>A?assembly=hg19",
        "id": "chr8:g.133584564G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.132572316G>A?assembly=hg38",
        "id": "chr8:g.132572316G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139131485",
        "rs": 139131485
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-133584564-G-A?dataset=gnomad_r2_1",
        "id": "8-133584564-G-A",
        "variant": "8:133584564 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132572316-G-A?dataset=gnomad_r3",
        "id": "8-132572316-G-A",
        "variant": "8:132572316 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132572316-G-A?dataset=gnomad_r4",
        "id": "8-132572316-G-A",
        "variant": "8:132572316 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 132572316,
          "referenceAllele": "G",
          "start": 132572315
        }
      ],
      "hgvs": [
        "NC_000008.11:g.132572316G>A",
        "CM000670.2:g.132572316G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 133584564,
          "referenceAllele": "G",
          "start": 133584563
        }
      ],
      "hgvs": [
        "NC_000008.10:g.133584564G>A",
        "CM000670.1:g.133584564G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 133653746,
          "referenceAllele": "G",
          "start": 133653745
        }
      ],
      "hgvs": [
        "NC_000008.9:g.133653746G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108300,
          "referenceAllele": "C",
          "start": 108299
        }
      ],
      "hgvs": [
        "NG_033068.1:g.108300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005400"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000620350.5:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484634.1:p.Pro464Leu",
        "hgvsWellDefined": "ENSP00000484634.1:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620350.5:c.1391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012472.6:c.1391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484634.1:p.Pro464Leu"
          },
          "RefSeq": {
            "hgvs": "NP_036604.2:p.Pro464Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000250173.5:c.*255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000250173.2:n.*255C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000518642.5:c.*255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428610.1:n.*255C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000519595.5:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429791.1:p.Pro464Leu",
        "hgvsWellDefined": "ENSP00000429791.1:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000522789.5:c.611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428015.1:p.Pro204Leu",
        "hgvsWellDefined": "ENSP00000428015.1:p.Pro204Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000618342.1:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484802.1:p.Pro464Leu",
        "hgvsWellDefined": "ENSP00000484802.1:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000620350.4:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484634.1:p.Pro464Leu",
        "hgvsWellDefined": "ENSP00000484634.1:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.4:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Pro464Leu",
        "hgvsWellDefined": "NP_036604.2:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.1:n.1615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_006716538.2:c.1409C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716601.2:p.Pro470Leu",
        "hgvsWellDefined": "XP_006716601.2:p.Pro470Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516950.1:c.1349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515252.1:p.Pro450Leu",
        "hgvsWellDefined": "XP_011515252.1:p.Pro450Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516952.1:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515254.1:p.Pro382Leu",
        "hgvsWellDefined": "XP_011515254.1:p.Pro382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516953.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515255.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_011515255.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516954.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515256.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_011515256.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XR_428377.2:n.1643C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827093897",
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321961.1:c.1331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308890.1:p.Pro444Leu",
        "hgvsWellDefined": "NP_001308890.1:p.Pro444Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094115",
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321962.1:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308891.1:p.Pro382Leu",
        "hgvsWellDefined": "NP_001308891.1:p.Pro382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094327",
      "coordinates": [
        {
          "allele": "T",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321963.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308892.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308892.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094539",
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "C",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321964.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308893.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308893.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094755",
      "coordinates": [
        {
          "allele": "T",
          "end": 2578,
          "referenceAllele": "C",
          "start": 2577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321965.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308894.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308894.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094941",
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321966.1:c.971C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308895.1:p.Pro324Leu",
        "hgvsWellDefined": "NP_001308895.1:p.Pro324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.5:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Pro464Leu",
        "hgvsWellDefined": "NP_036604.2:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.2:n.1615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135905.1:n.1604C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135906.1:n.1045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135907.1:n.1291C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135908.1:n.985C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135909.1:n.1409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135910.1:n.1716C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135911.1:n.1795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135912.1:n.2354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135913.1:n.2041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_006716538.3:c.1409C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716601.2:p.Pro470Leu",
        "hgvsWellDefined": "XP_006716601.2:p.Pro470Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516950.2:c.1349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515252.1:p.Pro450Leu",
        "hgvsWellDefined": "XP_011515252.1:p.Pro450Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013296.1:c.1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868785.1:p.Pro430Leu",
        "hgvsWellDefined": "XP_016868785.1:p.Pro430Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013297.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868786.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_016868786.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013298.1:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868787.1:p.Pro344Leu",
        "hgvsWellDefined": "XP_016868787.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.6:c.1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Pro464Leu",
        "hgvsWellDefined": "NP_036604.2:p.Pro464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668060",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620350.5:c.1391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012472.6:c.1391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484634.1:p.Pro464Leu"
          },
          "RefSeq": {
            "hgvs": "NP_036604.2:p.Pro464Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827093897",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321961.2:c.1331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308890.1:p.Pro444Leu",
        "hgvsWellDefined": "NP_001308890.1:p.Pro444Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094115",
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321962.2:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308891.1:p.Pro382Leu",
        "hgvsWellDefined": "NP_001308891.1:p.Pro382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094327",
      "coordinates": [
        {
          "allele": "T",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321963.2:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308892.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308892.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094539",
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321964.2:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308893.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308893.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094755",
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321965.2:c.1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308894.1:p.Pro344Leu",
        "hgvsWellDefined": "NP_001308894.1:p.Pro344Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685589"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094941",
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321966.2:c.971C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308895.1:p.Pro324Leu",
        "hgvsWellDefined": "NP_001308895.1:p.Pro324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.3:n.1543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135905.2:n.1532C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135906.2:n.973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135907.2:n.1219C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135908.2:n.913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135909.2:n.1429C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135910.2:n.1779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1899,
          "referenceAllele": "C",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135911.2:n.1899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135912.2:n.2458C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135913.2:n.2145C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703779"
    }
  ],
  "type": "nucleotide"
}