{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412333581",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.312+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575335[alleleid]",
        "alleleId": 575335,
        "preferredName": "NM_003611.3(OFD1):c.312+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582157",
        "RCV": [
          "RCV000706155"
        ],
        "variationId": 582157
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13754798G>T?assembly=hg19",
        "id": "chrX:g.13754798G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13736679G>T?assembly=hg38",
        "id": "chrX:g.13736679G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569102786",
        "rs": 1569102786
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13736679,
          "referenceAllele": "G",
          "start": 13736678
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13736679G>T",
        "CM000685.2:g.13736679G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13754798,
          "referenceAllele": "G",
          "start": 13754797
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13754798G>T",
        "CM000685.1:g.13754798G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13664719,
          "referenceAllele": "G",
          "start": 13664718
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13664719G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6967,
          "referenceAllele": "G",
          "start": 6966
        }
      ],
      "hgvs": [
        "NG_008872.1:g.6967G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2945,
          "referenceAllele": "C",
          "start": 2944
        }
      ],
      "hgvs": [
        "NG_011555.1:g.2945C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001814"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 595,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.595+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.174+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 538,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 538,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 816,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 816,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*375+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*375+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.134+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.134+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 201,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.201+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 703,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684401.1:n.703+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.312+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.312+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:n.312+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:n.312+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.-223+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:n.-223+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.623+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 670,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 670,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 670,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.168+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:n.168+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 670,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.120+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:n.120+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.-10+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:n.-10+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 102,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.-10+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:n.-10+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.333+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:n.333+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.672+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.168+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:n.168+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 669,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.120+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:n.120+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.-10+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:n.-10+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.-1628+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:n.-1628+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 845,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.-1628+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:n.-1628+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.-1628+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:n.-1628+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.-1628+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.-1628+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.312+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.312+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:n.312+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:n.312+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.312+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.312+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.-234+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:n.-234+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}