{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410148133",
  "communityStandardTitle": [
    "NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2181620[alleleid]",
        "alleleId": 2181620,
        "preferredName": "NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2126320",
        "RCV": [
          "RCV003051600"
        ],
        "variationId": 2126320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36164776C>G?assembly=hg19",
        "id": "chr21:g.36164776C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34792479C>G?assembly=hg38",
        "id": "chr21:g.34792479C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2145876825",
        "rs": 2145876825
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34792479-C-G?dataset=gnomad_r4",
        "id": "21-34792479-C-G",
        "variant": "21:34792479 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34792479,
          "referenceAllele": "C",
          "start": 34792478
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34792479C>G",
        "CM000683.2:g.34792479C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 36164776,
          "referenceAllele": "C",
          "start": 36164775
        }
      ],
      "hgvs": [
        "NC_000021.8:g.36164776C>G",
        "CM000683.1:g.36164776C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 35086646,
          "referenceAllele": "C",
          "start": 35086645
        }
      ],
      "hgvs": [
        "NC_000021.7:g.35086646C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1197233,
          "referenceAllele": "G",
          "start": 1197232
        }
      ],
      "hgvs": [
        "NG_011402.2:g.1197233G>C",
        "LRG_482:g.1197233G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001708"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000675419.1:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501943.1:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000501943.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.1099G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.1099G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Gly367Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Gly367Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000300305.7:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300305.3:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000300305.3:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000344691.8:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340690.4:p.Gly340Arg",
        "hgvsWellDefined": "ENSP00000340690.4:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000399240.5:c.826G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382184.1:p.Gly276Arg",
        "hgvsWellDefined": "ENSP00000382184.1:p.Gly276Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000437180.5:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409227.1:p.Gly367Arg",
        "hgvsWellDefined": "ENSP00000409227.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "ENST00000482318.5:c.*689G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477067.1:n.*689G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238171",
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.2:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Gly340Arg",
        "hgvsWellDefined": "NP_001001890.1:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580257320",
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.4:c.1099G>C",
        "LRG_482t1:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Gly367Arg",
        "hgvsWellDefined": "NP_001745.2:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261068.3:c.1063G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261125.1:p.Gly355Arg",
        "hgvsWellDefined": "XP_005261125.1:p.Gly355Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.3:c.907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Gly303Arg",
        "hgvsWellDefined": "XP_005261126.1:p.Gly303Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.1:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Gly367Arg",
        "hgvsWellDefined": "XP_011528068.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.1:c.1060G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Gly354Arg",
        "hgvsWellDefined": "XP_011528069.1:p.Gly354Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.1:c.868G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Gly290Arg",
        "hgvsWellDefined": "XP_011528070.1:p.Gly290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_005261069.4:c.907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261126.1:p.Gly303Arg",
        "hgvsWellDefined": "XP_005261126.1:p.Gly303Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "G",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529766.2:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528068.1:p.Gly367Arg",
        "hgvsWellDefined": "XP_011528068.1:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529767.2:c.1060G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528069.1:p.Gly354Arg",
        "hgvsWellDefined": "XP_011528069.1:p.Gly354Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_011529768.2:c.868G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528070.1:p.Gly290Arg",
        "hgvsWellDefined": "XP_011528070.1:p.Gly290Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "XM_017028487.1:c.946G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883976.1:p.Gly316Arg",
        "hgvsWellDefined": "XP_016883976.1:p.Gly316Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825238171",
      "coordinates": [
        {
          "allele": "C",
          "end": 2605,
          "referenceAllele": "G",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001001890.3:c.1018G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001890.1:p.Gly340Arg",
        "hgvsWellDefined": "NP_001001890.1:p.Gly340Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580257320",
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NM_001754.5:c.1099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001745.2:p.Gly367Arg",
        "hgvsWellDefined": "NP_001745.2:p.Gly367Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675419.1:c.1099G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001754.5:c.1099G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501943.1:p.Gly367Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001745.2:p.Gly367Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}