{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1889015382",
  "communityStandardTitle": [
    "NM_001002295.2(GATA3):c.778+1123T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3781093",
        "rs": 3781093
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8059964,
          "referenceAllele": "T",
          "start": 8059963
        }
      ],
      "hgvs": [
        "NC_000010.11:g.8059964T=",
        "CM000672.2:g.8059964T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8101927,
          "referenceAllele": "T",
          "start": 8101926
        }
      ],
      "hgvs": [
        "NC_000010.10:g.8101927T=",
        "CM000672.1:g.8101927T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8141933,
          "referenceAllele": "T",
          "start": 8141932
        }
      ],
      "hgvs": [
        "NC_000010.9:g.8141933T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10261,
          "referenceAllele": "T",
          "start": 10260
        }
      ],
      "hgvs": [
        "NG_015859.1:g.10261T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002884"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000346208.4:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341619.3:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000379328.9:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368632.3:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379328.9:c.778+1123T="
          },
          "RefSeq": {
            "hgvs": "NM_001002295.2:c.778+1123T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368632.3:n.778+1123T="
          },
          "RefSeq": {
            "hgvs": "NP_001002295.1:n.778+1123T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1233,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000346208.3:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341619.3:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1346,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1346,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000379328.7:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368632.3:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000461472.1:n.443+1123T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1335,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_001002295.1:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002295.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1335,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_002051.2:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002042.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1317,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252442.2:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252499.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1235,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252443.3:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252500.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1243,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252443.5:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252500.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_001002295.2:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002295.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379328.9:c.778+1123T="
          },
          "RefSeq": {
            "hgvs": "NM_001002295.2:c.778+1123T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368632.3:n.778+1123T="
          },
          "RefSeq": {
            "hgvs": "NP_001002295.1:n.778+1123T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "endIntronDirection": "+",
          "endIntronOffset": 1123,
          "referenceAllele": "T",
          "start": 1351,
          "startIntronDirection": "+",
          "startIntronOffset": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_002051.3:c.778+1123T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002042.1:n.778+1123T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695442"
    }
  ],
  "type": "nucleotide"
}