{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2387341011",
  "communityStandardTitle": [
    "NM_001754.5(RUNX1):c.58+63278T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2014300",
        "rs": 2014300
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 34985564,
          "referenceAllele": "A",
          "start": 34985563
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34985564A=",
        "CM000683.2:g.34985564A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36357861,
          "referenceAllele": "A",
          "start": 36357860
        }
      ],
      "hgvs": [
        "NC_000021.8:g.36357861A=",
        "CM000683.1:g.36357861A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 35279731,
          "referenceAllele": "A",
          "start": 35279730
        }
      ],
      "hgvs": [
        "NC_000021.7:g.35279731A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004148,
          "referenceAllele": "T",
          "start": 1004147
        }
      ],
      "hgvs": [
        "NG_011402.2:g.1004148T=",
        "LRG_482:g.1004148T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001708"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 252,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000675419.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501943.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.58+63278T="
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.58+63278T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:n.58+63278T="
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:n.58+63278T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 503,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000300305.7:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300305.3:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000416754.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405158.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000437180.5:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409227.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000455571.5:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388189.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 1492,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000475045.6:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477072.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 238,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000482318.5:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477067.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.4:c.58+63278T=",
        "LRG_482t1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.3:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 345,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.1:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.1:n.237+63278T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.4:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.2:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.2:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.2:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.2:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.2:n.284+63278T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "+",
          "endIntronOffset": 63278,
          "referenceAllele": "T",
          "start": 252,
          "startIntronDirection": "+",
          "startIntronOffset": 63277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.58+63278T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:n.58+63278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.58+63278T="
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.58+63278T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:n.58+63278T="
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:n.58+63278T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}