{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410935209",
  "communityStandardTitle": [
    "NM_005198.5(CHKB):c.810T= (p.Tyr270=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750764003",
        "rs": 750764003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50580198,
          "referenceAllele": "A",
          "start": 50580197
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50580198A=",
        "CM000684.2:g.50580198A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51018627,
          "referenceAllele": "A",
          "start": 51018626
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51018627A=",
        "CM000684.1:g.51018627A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49365493,
          "referenceAllele": "A",
          "start": 49365492
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49365493A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3470,
          "referenceAllele": "T",
          "start": 3469
        }
      ],
      "hgvs": [
        "NG_012643.1:g.3470T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7802,
          "referenceAllele": "T",
          "start": 7801
        }
      ],
      "hgvs": [
        "NG_029213.1:g.7802T=",
        "LRG_855:g.7802T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000406938.3:c.810T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384400.3:p.Tyr270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406938.3:c.810T="
          },
          "RefSeq": {
            "hgvs": "NM_005198.5:c.810T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384400.3:p.Tyr270="
          },
          "RefSeq": {
            "hgvs": "NP_005189.2:p.Tyr270="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000406938.2:c.810T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384400.2:p.Tyr270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56,
          "referenceAllele": "T",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000464225.5:n.56T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "T",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000468532.5:n.773T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000471515.5:n.172T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000479003.5:n.1521T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000481673.5:n.1260T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "T",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000484266.5:n.805T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000489453.1:n.435T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1666,
          "referenceAllele": "T",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041998",
      "geneNCBI_id": 386593,
      "geneSymbol": "CHKB-CPT1B",
      "hgvs": [
        "ENST00000492556.5:n.1666T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "T",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "ENST00000492582.5:n.1469T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583622",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "NM_005198.4:c.810T=",
        "LRG_855t1:c.810T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005189.2:p.Tyr270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041998",
      "geneNCBI_id": 386593,
      "geneSymbol": "CHKB-CPT1B",
      "hgvs": [
        "NR_027928.2:n.1028T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583622",
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001938",
      "geneNCBI_id": 1120,
      "geneSymbol": "CHKB",
      "hgvs": [
        "NM_005198.5:c.810T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005189.2:p.Tyr270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406938.3:c.810T="
          },
          "RefSeq": {
            "hgvs": "NM_005198.5:c.810T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384400.3:p.Tyr270="
          },
          "RefSeq": {
            "hgvs": "NP_005189.2:p.Tyr270="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}