{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608718",
  "communityStandardTitle": [
    "NM_005257.6(GATA6):c.1428+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378932[alleleid]",
        "alleleId": 378932,
        "preferredName": "NM_005257.6(GATA6):c.1428+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390252",
        "RCV": [
          "RCV000430224"
        ],
        "variationId": 390252
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.19761544G>A?assembly=hg19",
        "id": "chr18:g.19761544G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.22181583G>A?assembly=hg38",
        "id": "chr18:g.22181583G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523694",
        "rs": 1057523694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 22181583,
          "referenceAllele": "G",
          "start": 22181582
        }
      ],
      "hgvs": [
        "NC_000018.10:g.22181583G>A",
        "CM000680.2:g.22181583G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 19761544,
          "referenceAllele": "G",
          "start": 19761543
        }
      ],
      "hgvs": [
        "NC_000018.9:g.19761544G>A",
        "CM000680.1:g.19761544G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 18015542,
          "referenceAllele": "G",
          "start": 18015541
        }
      ],
      "hgvs": [
        "NC_000018.8:g.18015542G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17141,
          "referenceAllele": "G",
          "start": 17140
        }
      ],
      "hgvs": [
        "NG_032677.1:g.17141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17147,
          "referenceAllele": "G",
          "start": 17146
        }
      ],
      "hgvs": [
        "NG_032677.2:g.17147G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706147"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1559,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004174",
      "geneNCBI_id": 2627,
      "geneSymbol": "GATA6",
      "hgvs": [
        "ENST00000269216.10:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269216.3:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269216.10:c.1428+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005257.6:c.1428+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269216.3:n.1428+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005248.2:n.1428+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1705,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004174",
      "geneNCBI_id": 2627,
      "geneSymbol": "GATA6",
      "hgvs": [
        "ENST00000269216.7:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269216.3:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1640,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004174",
      "geneNCBI_id": 2627,
      "geneSymbol": "GATA6",
      "hgvs": [
        "ENST00000581694.1:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462313.1:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1711,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1711,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004174",
      "geneNCBI_id": 2627,
      "geneSymbol": "GATA6",
      "hgvs": [
        "NM_005257.5:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005248.2:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1559,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004174",
      "geneNCBI_id": 2627,
      "geneSymbol": "GATA6",
      "hgvs": [
        "NM_005257.6:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005248.2:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269216.10:c.1428+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005257.6:c.1428+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269216.3:n.1428+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005248.2:n.1428+5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}