{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320251372",
  "communityStandardTitle": [
    "NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=533842[alleleid]",
        "alleleId": 533842,
        "preferredName": "NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/532658",
        "RCV": [
          "RCV000639518",
          "RCV001816590",
          "RCV002256429"
        ],
        "variationId": 532658
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36164679C>A?assembly=hg19",
        "id": "chr21:g.36164679C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34792382C>A?assembly=hg38",
        "id": "chr21:g.34792382C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/946348885",
        "rs": 946348885
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36164679-C-A?dataset=gnomad_r2_1",
        "id": "21-36164679-C-A",
        "variant": "21:36164679 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34792382-C-A?dataset=gnomad_r3",
        "id": "21-34792382-C-A",
        "variant": "21:34792382 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34792382-C-A?dataset=gnomad_r4",
        "id": "21-34792382-C-A",
        "variant": "21:34792382 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 34792382,
          "referenceAllele": "C",
          "start": 34792381
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34792382C>A",
        "CM000683.2:g.34792382C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 36164679,
          "referenceAllele": "C",
          "start": 36164678
        }
      ],
      "hgvs": [
        "NC_000021.8:g.36164679C>A",
        "CM000683.1:g.36164679C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 35086549,
          "referenceAllele": "C",
          "start": 35086548
        }
      ],
      "hgvs": [
        "NC_000021.7:g.35086549C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197330,
          "referenceAllele": "G",
          "start": 1197329
        }
      ],
      "hgvs": [
        "NG_011402.2:g.1197330G>T",
        "LRG_482:g.1197330G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001708"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000675419.1:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501943.1:p.Ser399Ile",
        "hgvsWellDefined": "ENSP00000501943.1:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.1196G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.1196G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Ser399Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Ser399Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "G",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000300305.7:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300305.3:p.Ser399Ile",
        "hgvsWellDefined": "ENSP00000300305.3:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2693,
          "referenceAllele": "G",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000344691.8:c.1115G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340690.4:p.Ser372Ile",
        "hgvsWellDefined": "ENSP00000340690.4:p.Ser372Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399240.5:c.923G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382184.1:p.Ser308Ile",
        "hgvsWellDefined": "ENSP00000382184.1:p.Ser308Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000437180.5:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409227.1:p.Ser399Ile",
        "hgvsWellDefined": "ENSP00000409227.1:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000482318.5:c.*786G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477067.1:n.*786G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238274",
      "coordinates": [
        {
          "allele": "T",
          "end": 2693,
          "referenceAllele": "G",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.2:c.1115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Ser372Ile",
        "hgvsWellDefined": "NP_001001890.1:p.Ser372Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809993",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.4:c.1196G>T",
        "LRG_482t1:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Ser399Ile",
        "hgvsWellDefined": "NP_001745.2:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261068.3:c.1160G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261125.1:p.Ser387Ile",
        "hgvsWellDefined": "XP_005261125.1:p.Ser387Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.3:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Ser335Ile",
        "hgvsWellDefined": "XP_005261126.1:p.Ser335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "G",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.1:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Ser399Ile",
        "hgvsWellDefined": "XP_011528068.1:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.1:c.1157G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Ser386Ile",
        "hgvsWellDefined": "XP_011528069.1:p.Ser386Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.1:c.965G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Ser322Ile",
        "hgvsWellDefined": "XP_011528070.1:p.Ser322Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.4:c.1004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Ser335Ile",
        "hgvsWellDefined": "XP_005261126.1:p.Ser335Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.2:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Ser399Ile",
        "hgvsWellDefined": "XP_011528068.1:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "G",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.2:c.1157G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Ser386Ile",
        "hgvsWellDefined": "XP_011528069.1:p.Ser386Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.2:c.965G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Ser322Ile",
        "hgvsWellDefined": "XP_011528070.1:p.Ser322Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_017028487.1:c.1043G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883976.1:p.Ser348Ile",
        "hgvsWellDefined": "XP_016883976.1:p.Ser348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238274",
      "coordinates": [
        {
          "allele": "T",
          "end": 2702,
          "referenceAllele": "G",
          "start": 2701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.3:c.1115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Ser372Ile",
        "hgvsWellDefined": "NP_001001890.1:p.Ser372Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809993",
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.1196G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Ser399Ile",
        "hgvsWellDefined": "NP_001745.2:p.Ser399Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.1196G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.1196G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Ser399Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Ser399Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}