{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1239279312",
  "communityStandardTitle": [
    "NM_022552.5(DNMT3A):c.492+86T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1419974780",
        "rs": 1419974780
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25275414,
          "referenceAllele": "A",
          "start": 25275413
        }
      ],
      "hgvs": [
        "NC_000002.12:g.25275414A=",
        "CM000664.2:g.25275414A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25498283,
          "referenceAllele": "A",
          "start": 25498282
        }
      ],
      "hgvs": [
        "NC_000002.11:g.25498283A=",
        "CM000664.1:g.25498283A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 25351787,
          "referenceAllele": "A",
          "start": 25351786
        }
      ],
      "hgvs": [
        "NC_000002.10:g.25351787A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72177,
          "referenceAllele": "T",
          "start": 72176
        }
      ],
      "hgvs": [
        "NG_029465.2:g.72177T=",
        "LRG_459:g.72177T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004404"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 21,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000682842.1:n.21+86T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000321117.10:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324375.5:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746396",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321117.10:c.492+86T="
          },
          "RefSeq": {
            "hgvs": "NM_022552.5:c.492+86T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324375.5:n.492+86T="
          },
          "RefSeq": {
            "hgvs": "NP_072046.2:n.492+86T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000264709.7:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264709.3:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000321117.9:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324375.5:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "ENST00000380756.7:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370132.3:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_022552.4:c.492+86T=",
        "LRG_459t1:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "NP_072046.2:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_175629.2:c.492+86T=",
        "LRG_459t4:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "NP_783328.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264175.3:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264232.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 770,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_006711957.2:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712020.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 63,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_006711958.2:c.48+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006712021.1:n.48+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532662.1:c.345+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530964.1:n.345+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 873,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532663.1:c.327+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530965.1:n.327+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 770,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532664.1:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530966.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532668.1:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530970.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NR_135490.1:n.830+86T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_005264175.5:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264232.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 695,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532662.2:c.345+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530964.1:n.345+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 872,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532663.2:c.327+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530965.1:n.327+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 770,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_011532664.2:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530966.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 801,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XM_017003526.1:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859015.1:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "XR_001738657.1:n.769+86T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 723,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NR_135490.2:n.723+86T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 86,
          "referenceAllele": "T",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002978",
      "geneNCBI_id": 1788,
      "geneSymbol": "DNMT3A",
      "hgvs": [
        "NM_022552.5:c.492+86T="
      ],
      "proteinEffect": {
        "hgvs": "NP_072046.2:n.492+86T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321117.10:c.492+86T="
          },
          "RefSeq": {
            "hgvs": "NM_022552.5:c.492+86T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324375.5:n.492+86T="
          },
          "RefSeq": {
            "hgvs": "NP_072046.2:n.492+86T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}