{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602488",
  "communityStandardTitle": [
    "NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362898[alleleid]",
        "alleleId": 362898,
        "preferredName": "NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376019",
        "RCV": [
          "RCV000433391",
          "RCV001290697"
        ],
        "variationId": 376019
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36252876C>A?assembly=hg19",
        "id": "chr21:g.36252876C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34880579C>A?assembly=hg38",
        "id": "chr21:g.34880579C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519749",
        "rs": 1057519749
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 34880579,
          "referenceAllele": "C",
          "start": 34880578
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34880579C>A",
        "CM000683.2:g.34880579C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36252876,
          "referenceAllele": "C",
          "start": 36252875
        }
      ],
      "hgvs": [
        "NC_000021.8:g.36252876C>A",
        "CM000683.1:g.36252876C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 35174746,
          "referenceAllele": "C",
          "start": 35174745
        }
      ],
      "hgvs": [
        "NC_000021.7:g.35174746C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109133,
          "referenceAllele": "G",
          "start": 1109132
        }
      ],
      "hgvs": [
        "NG_011402.2:g.1109133G>T",
        "LRG_482:g.1109133G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001708"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000675419.1:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501943.1:p.Arg162Ser",
        "hgvsWellDefined": "ENSP00000501943.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.486G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.486G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Arg162Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Arg162Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000300305.7:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300305.3:p.Arg162Ser",
        "hgvsWellDefined": "ENSP00000300305.3:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000344691.8:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340690.4:p.Arg135Ser",
        "hgvsWellDefined": "ENSP00000340690.4:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000358356.9:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351123.5:p.Arg135Ser",
        "hgvsWellDefined": "ENSP00000351123.5:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399237.6:c.450G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382182.2:p.Arg150Ser",
        "hgvsWellDefined": "ENSP00000382182.2:p.Arg150Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399240.5:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382184.1:p.Arg135Ser",
        "hgvsWellDefined": "ENSP00000382184.1:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000437180.5:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409227.1:p.Arg162Ser",
        "hgvsWellDefined": "ENSP00000409227.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000482318.5:c.*76G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477067.1:n.*76G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825237259",
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.2:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Arg135Ser",
        "hgvsWellDefined": "NP_001001890.1:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825582020",
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001122607.1:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116079.1:p.Arg135Ser",
        "hgvsWellDefined": "NP_001116079.1:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383509",
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.4:c.486G>T",
        "LRG_482t1:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Arg162Ser",
        "hgvsWellDefined": "NP_001745.2:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261068.3:c.450G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261125.1:p.Arg150Ser",
        "hgvsWellDefined": "XP_005261125.1:p.Arg150Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.3:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_005261126.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.1:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_011528068.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "G",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.1:c.447G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Arg149Ser",
        "hgvsWellDefined": "XP_011528069.1:p.Arg149Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.1:c.447G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Arg149Ser",
        "hgvsWellDefined": "XP_011528070.1:p.Arg149Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.1:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_011528072.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.1:n.665G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.4:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_005261126.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.2:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_011528068.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.2:c.447G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Arg149Ser",
        "hgvsWellDefined": "XP_011528069.1:p.Arg149Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.2:c.447G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Arg149Ser",
        "hgvsWellDefined": "XP_011528070.1:p.Arg149Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529770.2:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528072.1:p.Arg162Ser",
        "hgvsWellDefined": "XP_011528072.1:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_017028487.1:c.333G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883976.1:p.Arg111Ser",
        "hgvsWellDefined": "XP_016883976.1:p.Arg111Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XR_937576.2:n.712G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825237259",
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.3:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Arg135Ser",
        "hgvsWellDefined": "NP_001001890.1:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825582020",
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001122607.2:c.405G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116079.1:p.Arg135Ser",
        "hgvsWellDefined": "NP_001116079.1:p.Arg135Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383509",
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.486G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Arg162Ser",
        "hgvsWellDefined": "NP_001745.2:p.Arg162Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.486G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.486G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Arg162Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Arg162Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}