{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412341700",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.1063C>A (p.Leu355Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13771494C>A?assembly=hg19",
        "id": "chrX:g.13771494C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13753375C>A?assembly=hg38",
        "id": "chrX:g.13753375C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13753375,
          "referenceAllele": "C",
          "start": 13753374
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13753375C>A",
        "CM000685.2:g.13753375C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13771494,
          "referenceAllele": "C",
          "start": 13771493
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13771494C>A",
        "CM000685.1:g.13771494C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13681415,
          "referenceAllele": "C",
          "start": 13681414
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13681415C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23663,
          "referenceAllele": "C",
          "start": 23662
        }
      ],
      "hgvs": [
        "NG_008872.1:g.23663C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*756C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*756C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*636C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*636C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.1226C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.1592C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.*623C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.*623C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*756C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*756C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2231,
          "referenceAllele": "C",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*1790C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*1790C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.831-3203C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.831-3203C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683065.1:n.352C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1875,
          "referenceAllele": "C",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*1294C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*1294C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "endIntronDirection": "-",
          "endIntronOffset": 3202,
          "referenceAllele": "C",
          "start": 1261,
          "startIntronDirection": "-",
          "startIntronOffset": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.936-3203C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.936-3203C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "C",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.1077C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.2172C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*1277C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*1277C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*1294C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*1294C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*756C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*756C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.1063C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Leu355Ile",
        "hgvsWellDefined": "ENSP00000344314.6:p.Leu355Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1063C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1063C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Leu355Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Leu355Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.1063C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Leu355Ile",
        "hgvsWellDefined": "ENSP00000344314.6:p.Leu355Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.943C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:p.Leu315Ile",
        "hgvsWellDefined": "ENSP00000369923.3:p.Leu315Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Leu215Ile",
        "hgvsWellDefined": "ENSP00000369941.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.532C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:p.Leu178Ile",
        "hgvsWellDefined": "ENSP00000381432.4:p.Leu178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.2038C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.1063C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Leu355Ile",
        "hgvsWellDefined": "NP_003602.1:p.Leu355Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.1084C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Leu362Ile",
        "hgvsWellDefined": "XP_005274656.1:p.Leu362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.1084C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Leu362Ile",
        "hgvsWellDefined": "XP_005274659.1:p.Leu362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.964C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Leu322Ile",
        "hgvsWellDefined": "XP_005274660.1:p.Leu322Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.943C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Leu315Ile",
        "hgvsWellDefined": "XP_005274661.1:p.Leu315Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.919C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Leu307Ile",
        "hgvsWellDefined": "XP_005274663.1:p.Leu307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Leu215Ile",
        "hgvsWellDefined": "XP_005274664.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.1084C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Leu362Ile",
        "hgvsWellDefined": "XP_011543893.1:p.Leu362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.871C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Leu291Ile",
        "hgvsWellDefined": "XP_011543894.1:p.Leu291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.1084C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Leu362Ile",
        "hgvsWellDefined": "XP_011543895.1:p.Leu362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.742C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Leu248Ile",
        "hgvsWellDefined": "XP_011543896.1:p.Leu248Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.742C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Leu248Ile",
        "hgvsWellDefined": "XP_011543897.1:p.Leu248Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.1084C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Leu362Ile",
        "hgvsWellDefined": "XP_011543898.1:p.Leu362Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "C",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Leu215Ile",
        "hgvsWellDefined": "XP_011543899.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "endIntronDirection": "+",
          "endIntronOffset": 2007,
          "referenceAllele": "C",
          "start": 79,
          "startIntronDirection": "+",
          "startIntronOffset": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.-55+2007C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:n.-55+2007C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.1423C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.943C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Leu315Ile",
        "hgvsWellDefined": "NP_001317138.1:p.Leu315Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Leu215Ile",
        "hgvsWellDefined": "NP_001317139.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.919C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Leu307Ile",
        "hgvsWellDefined": "XP_005274663.1:p.Leu307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.871C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Leu291Ile",
        "hgvsWellDefined": "XP_011543894.1:p.Leu291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.742C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Leu248Ile",
        "hgvsWellDefined": "XP_011543896.1:p.Leu248Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "C",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Leu215Ile",
        "hgvsWellDefined": "XP_011543899.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Leu215Ile",
        "hgvsWellDefined": "XP_016885398.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.121C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:p.Leu41Ile",
        "hgvsWellDefined": "XP_016885400.1:p.Leu41Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.-213C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:n.-213C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2260,
          "referenceAllele": "C",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.-213C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:n.-213C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.-213C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:n.-213C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.-213C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.-213C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.1063C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Leu355Ile",
        "hgvsWellDefined": "NP_003602.1:p.Leu355Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1063C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1063C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Leu355Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Leu355Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.943C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Leu315Ile",
        "hgvsWellDefined": "NP_001317138.1:p.Leu315Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.643C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Leu215Ile",
        "hgvsWellDefined": "NP_001317139.1:p.Leu215Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}