{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1485101198",
  "communityStandardTitle": [
    "NM_000325.6(PITX2):c.409C= (p.Arg137=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909248",
        "rs": 121909248
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 110621166,
          "referenceAllele": "G",
          "start": 110621165
        }
      ],
      "hgvs": [
        "NC_000004.12:g.110621166G=",
        "CM000666.2:g.110621166G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111542322,
          "referenceAllele": "G",
          "start": 111542321
        }
      ],
      "hgvs": [
        "NC_000004.11:g.111542322G=",
        "CM000666.1:g.111542322G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111761771,
          "referenceAllele": "G",
          "start": 111761770
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111761771G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21187,
          "referenceAllele": "C",
          "start": 21186
        }
      ],
      "hgvs": [
        "NG_007120.1:g.21187C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000494"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 2477,
          "referenceAllele": "C",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.5:c.185-2478C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.2:n.185-2478C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000614423.5:c.307C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481951.2:p.Arg103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000616641.5:n.375C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644488.2:n.379C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.8:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.4:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644488.1:n.451C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000644743.1:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495061.1:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767970",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.409C="
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.409C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Arg137="
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Arg137="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000645131.1:n.340C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000306732.7:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304169.3:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2094,
          "referenceAllele": "C",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000354925.6:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347004.2:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000355080.9:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347192.5:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 2477,
          "referenceAllele": "C",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.7:c.185-2478C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.3:n.185-2478C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394598.6:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378097.2:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511837.5:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421454.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511990.1:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424142.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1000,
          "referenceAllele": "C",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000557119.2:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475617.1:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "referenceAllele": "C",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.4:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000614423.4:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481951.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000616641.4:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484909.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888322",
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.5:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.1:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204398.1:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191327.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204399.1:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191328.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "referenceAllele": "C",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.2:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089127959",
      "coordinates": [
        {
          "allele": "C",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.2:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_006714235.2:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714298.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_011532027.1:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530329.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_024454090.1:c.55C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309858.1:p.Arg19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069888322",
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.6:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Arg137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.409C="
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.409C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Arg137="
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Arg137="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089127959",
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.250C="
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Arg84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}