{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343819",
  "communityStandardTitle": [
    "NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48397[alleleid]",
        "alleleId": 48397,
        "preferredName": "NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39798",
        "RCV": [
          "RCV000033020",
          "RCV001731475",
          "RCV002460894"
        ],
        "variationId": 39798
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-133645203-C-G",
        "id": "8-133645203-C-G",
        "variant": "8:133645203 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.133645203C>G?assembly=hg19",
        "id": "chr8:g.133645203C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.132632957C>G?assembly=hg38",
        "id": "chr8:g.132632957C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200321595",
        "rs": 200321595
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-133645203-C-G?dataset=gnomad_r2_1",
        "id": "8-133645203-C-G",
        "variant": "8:133645203 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132632957-C-G?dataset=gnomad_r3",
        "id": "8-132632957-C-G",
        "variant": "8:132632957 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-132632957-C-G?dataset=gnomad_r4",
        "id": "8-132632957-C-G",
        "variant": "8:132632957 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 132632957,
          "referenceAllele": "C",
          "start": 132632956
        }
      ],
      "hgvs": [
        "NC_000008.11:g.132632957C>G",
        "CM000670.2:g.132632957C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 133645203,
          "referenceAllele": "C",
          "start": 133645202
        }
      ],
      "hgvs": [
        "NC_000008.10:g.133645203C>G",
        "CM000670.1:g.133645203C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 133714385,
          "referenceAllele": "C",
          "start": 133714384
        }
      ],
      "hgvs": [
        "NC_000008.9:g.133714385C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47661,
          "referenceAllele": "G",
          "start": 47660
        }
      ],
      "hgvs": [
        "NG_033068.1:g.47661G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005400"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000620350.5:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484634.1:p.Asp146His",
        "hgvsWellDefined": "ENSP00000484634.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620350.5:c.436G>C"
          },
          "RefSeq": {
            "hgvs": "NM_012472.6:c.436G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484634.1:p.Asp146His"
          },
          "RefSeq": {
            "hgvs": "NP_036604.2:p.Asp146His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000250173.5:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000250173.2:p.Asp146His",
        "hgvsWellDefined": "ENSP00000250173.2:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000518642.5:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428610.1:p.Asp146His",
        "hgvsWellDefined": "ENSP00000428610.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000519595.5:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429791.1:p.Asp146His",
        "hgvsWellDefined": "ENSP00000429791.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 528,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000520446.5:n.528+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000523503.1:n.415+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000618342.1:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484802.1:p.Asp146His",
        "hgvsWellDefined": "ENSP00000484802.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "ENST00000620350.4:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484634.1:p.Asp146His",
        "hgvsWellDefined": "ENSP00000484634.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092576",
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.4:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Asp146His",
        "hgvsWellDefined": "NP_036604.2:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.1:n.560G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_006716538.2:c.454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716601.2:p.Asp152His",
        "hgvsWellDefined": "XP_006716601.2:p.Asp152His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516950.1:c.454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515252.1:p.Asp152His",
        "hgvsWellDefined": "XP_011515252.1:p.Asp152His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516951.1:c.454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515253.1:p.Asp152His",
        "hgvsWellDefined": "XP_011515253.1:p.Asp152His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516952.1:c.190G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515254.1:p.Asp64His",
        "hgvsWellDefined": "XP_011515254.1:p.Asp64His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516953.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515255.1:p.Asp26His",
        "hgvsWellDefined": "XP_011515255.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516954.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515256.1:p.Asp26His",
        "hgvsWellDefined": "XP_011515256.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XR_428377.2:n.579G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827093735",
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321961.1:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308890.1:p.Asp146His",
        "hgvsWellDefined": "NP_001308890.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025166",
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321962.1:c.190G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308891.1:p.Asp64His",
        "hgvsWellDefined": "NP_001308891.1:p.Asp64His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094142",
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321963.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308892.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308892.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094346",
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321964.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308893.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308893.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514642"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094559",
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "referenceAllele": "G",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321965.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308894.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308894.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094778",
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321966.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308895.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308895.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092576",
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.5:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Asp146His",
        "hgvsWellDefined": "NP_036604.2:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.2:n.560G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 866,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135905.1:n.866+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135906.1:n.307+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135907.1:n.553+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135908.1:n.307+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135909.1:n.671+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135910.1:n.978+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135911.1:n.1057+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1616,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135912.1:n.1616+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135913.1:n.1303+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_006716538.3:c.454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716601.2:p.Asp152His",
        "hgvsWellDefined": "XP_006716601.2:p.Asp152His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_011516950.2:c.454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515252.1:p.Asp152His",
        "hgvsWellDefined": "XP_011515252.1:p.Asp152His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013296.1:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868785.1:p.Asp112His",
        "hgvsWellDefined": "XP_016868785.1:p.Asp112His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013297.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868786.1:p.Asp26His",
        "hgvsWellDefined": "XP_016868786.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "XM_017013298.1:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868787.1:p.Asp26His",
        "hgvsWellDefined": "XP_016868787.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092576",
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_012472.6:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036604.2:p.Asp146His",
        "hgvsWellDefined": "NP_036604.2:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668060",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000620350.5:c.436G>C"
          },
          "RefSeq": {
            "hgvs": "NM_012472.6:c.436G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484634.1:p.Asp146His"
          },
          "RefSeq": {
            "hgvs": "NP_036604.2:p.Asp146His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827093735",
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321961.2:c.436G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308890.1:p.Asp146His",
        "hgvsWellDefined": "NP_001308890.1:p.Asp146His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025166",
      "coordinates": [
        {
          "allele": "C",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321962.2:c.190G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308891.1:p.Asp64His",
        "hgvsWellDefined": "NP_001308891.1:p.Asp64His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094142",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321963.2:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308892.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308892.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094346",
      "coordinates": [
        {
          "allele": "C",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321964.2:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308893.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308893.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094559",
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321965.2:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308894.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308894.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685589"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827094778",
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NM_001321966.2:c.76G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308895.1:p.Asp26His",
        "hgvsWellDefined": "NP_001308895.1:p.Asp26His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_073525.3:n.488G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 794,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135905.2:n.794+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135906.2:n.235+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 481,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135907.2:n.481+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135908.2:n.235+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 691,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135909.2:n.691+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1041,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1041,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135910.2:n.1041+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135911.2:n.1161+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1720,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1720,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135912.2:n.1720+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "endIntronDirection": "+",
          "endIntronOffset": 4978,
          "referenceAllele": "G",
          "start": 1407,
          "startIntronDirection": "+",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016725",
      "geneNCBI_id": 23639,
      "geneSymbol": "DNAAF11",
      "hgvs": [
        "NR_135913.2:n.1407+4978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703779"
    }
  ],
  "type": "nucleotide"
}