{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3238048409",
  "communityStandardTitle": [
    "NM_006892.4(DNMT3B):c.562T= (p.Tyr188=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518176",
        "rs": 1057518176
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 32787359,
          "referenceAllele": "T",
          "start": 32787358
        }
      ],
      "hgvs": [
        "NC_000020.11:g.32787359T=",
        "CM000682.2:g.32787359T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 31375165,
          "referenceAllele": "T",
          "start": 31375164
        }
      ],
      "hgvs": [
        "NC_000020.10:g.31375165T=",
        "CM000682.1:g.31375165T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 30838826,
          "referenceAllele": "T",
          "start": 30838825
        }
      ],
      "hgvs": [
        "NC_000020.9:g.30838826T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29975,
          "referenceAllele": "T",
          "start": 29974
        }
      ],
      "hgvs": [
        "NG_007290.1:g.29975T=",
        "LRG_56:g.29975T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000538"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696231.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512497.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696232.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512498.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696233.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512499.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "T",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696234.1:n.546T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "T",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696235.1:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512500.1:p.Tyr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "T",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696236.1:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512501.1:p.Tyr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696237.1:n.668T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "T",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696238.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512502.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "T",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000696239.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512503.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000201963.3:c.598T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000201963.3:p.Tyr200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000328111.6:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328547.2:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328111.6:c.562T="
          },
          "RefSeq": {
            "hgvs": "NM_006892.4:c.562T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328547.2:p.Tyr188="
          },
          "RefSeq": {
            "hgvs": "NP_008823.1:p.Tyr188="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000348286.6:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337764.2:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000353855.6:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313397.4:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "T",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000443239.7:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403169.2:p.Tyr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "T",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "ENST00000456297.6:c.334T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412305.1:p.Tyr112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826293814",
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_001207055.1:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193984.1:p.Tyr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826294217",
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_001207056.1:c.334T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193985.1:p.Tyr112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829664701",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_006892.3:c.562T=",
        "LRG_56t1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_008823.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830384600",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175848.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787044.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830385481",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175849.1:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787045.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830386365",
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175850.2:c.598T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787046.1:p.Tyr200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "T",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XM_011528653.1:c.598T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526955.1:p.Tyr200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "T",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XM_011528654.1:c.472T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526956.1:p.Tyr158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936510.1:n.734T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936511.1:n.734T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936512.1:n.609T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XM_011528653.2:c.598T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526955.1:p.Tyr200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "T",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XM_011528654.2:c.472T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526956.1:p.Tyr158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "T",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936510.2:n.745T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "T",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936511.2:n.745T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "T",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "XR_936512.2:n.621T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826293814",
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_001207055.2:c.436T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193984.1:p.Tyr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826294217",
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_001207056.2:c.334T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193985.1:p.Tyr112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829664701",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_006892.4:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_008823.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328111.6:c.562T="
          },
          "RefSeq": {
            "hgvs": "NM_006892.4:c.562T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328547.2:p.Tyr188="
          },
          "RefSeq": {
            "hgvs": "NP_008823.1:p.Tyr188="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830384600",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175848.2:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787044.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830385481",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175849.2:c.562T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787045.1:p.Tyr188="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830386365",
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002979",
      "geneNCBI_id": 1789,
      "geneSymbol": "DNMT3B",
      "hgvs": [
        "NM_175850.3:c.598T="
      ],
      "proteinEffect": {
        "hgvs": "NP_787046.1:p.Tyr200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729628"
    }
  ],
  "type": "nucleotide"
}