{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA104048781",
  "communityStandardTitle": [
    "NC_000004.12:g.110636981C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=889940[alleleid]",
        "alleleId": 889940,
        "preferredName": "NM_153427.3(PITX2):c.-211G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902274",
        "RCV": [
          "RCV001148718",
          "RCV001148720",
          "RCV001150272",
          "RCV001148717",
          "RCV001148719",
          "RCV001148721",
          "RCV001150271"
        ],
        "variationId": 902274
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.111558137C>T?assembly=hg19",
        "id": "chr4:g.111558137C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110636981C>T?assembly=hg38",
        "id": "chr4:g.110636981C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111733107",
        "rs": 111733107
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-111558137-C-T?dataset=gnomad_r2_1",
        "id": "4-111558137-C-T",
        "variant": "4:111558137 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110636981-C-T?dataset=gnomad_r3",
        "id": "4-110636981-C-T",
        "variant": "4:110636981 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-110636981-C-T?dataset=gnomad_r4",
        "id": "4-110636981-C-T",
        "variant": "4:110636981 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 110636981,
          "referenceAllele": "C",
          "start": 110636980
        }
      ],
      "hgvs": [
        "NC_000004.12:g.110636981C>T",
        "CM000666.2:g.110636981C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 111558137,
          "referenceAllele": "C",
          "start": 111558136
        }
      ],
      "hgvs": [
        "NC_000004.11:g.111558137C>T",
        "CM000666.1:g.111558137C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 111777586,
          "referenceAllele": "C",
          "start": 111777585
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111777586C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5372,
          "referenceAllele": "G",
          "start": 5371
        }
      ],
      "hgvs": [
        "NG_007120.1:g.5372G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000494"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.5:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.2:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.8:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.4:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000354925.6:c.-445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347004.2:n.-445G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000355080.9:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347192.5:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394595.7:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378095.3:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40,
          "referenceAllele": "G",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000394598.6:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378097.2:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 3972,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511837.5:c.-10-3973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421454.1:n.-10-3973G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "endIntronDirection": "-",
          "endIntronOffset": 3972,
          "referenceAllele": "G",
          "start": 98,
          "startIntronDirection": "-",
          "startIntronOffset": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000511990.1:c.-10-3973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424142.1:n.-10-3973G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000613094.4:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484763.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 3972,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000614423.4:c.-10-3973G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481951.1:n.-10-3973G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "ENST00000616641.4:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484909.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.1:c.-445G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:n.-445G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 3972,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204398.1:c.-10-3973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191327.1:n.-10-3973G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "-",
          "endIntronOffset": 3972,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "-",
          "startIntronOffset": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204399.1:c.-10-3973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191328.1:n.-10-3973G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.2:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.2:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "referenceAllele": "G",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_011532027.1:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530329.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.-445G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:n.-445G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.-211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:n.-211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}