{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121802",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.294C>G (p.Ile98Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26987[alleleid]",
        "alleleId": 26987,
        "preferredName": "NM_001918.5(DBT):c.294C>G (p.Ile98Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11948",
        "RCV": [
          "RCV003581562"
        ],
        "variationId": 11948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100696428G>C?assembly=hg19",
        "id": "chr1:g.100696428G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100230872G>C?assembly=hg38",
        "id": "chr1:g.100230872G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121965001",
        "rs": 121965001
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100230872,
          "referenceAllele": "G",
          "start": 100230871
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100230872G>C",
        "CM000663.2:g.100230872G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100696428,
          "referenceAllele": "G",
          "start": 100696427
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100696428G>C",
        "CM000663.1:g.100696428G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100469016,
          "referenceAllele": "G",
          "start": 100469015
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100469016G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23982,
          "referenceAllele": "C",
          "start": 23981
        }
      ],
      "hgvs": [
        "NG_011852.2:g.23982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Ile98Met",
        "hgvsWellDefined": "ENSP00000505544.1:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370131.3:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359150.3:p.Ile98Met",
        "hgvsWellDefined": "ENSP00000359150.3:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Ile98Met",
        "hgvsWellDefined": "ENSP00000359151.3:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.294C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.294C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ile98Met"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ile98Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA121803",
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ile98Met",
        "hgvsWellDefined": "NP_001909.3:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 4564,
          "referenceAllele": "C",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 4563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.-111+4564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:n.-111+4564C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.1:n.314C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "endIntronDirection": "+",
          "endIntronOffset": 4564,
          "referenceAllele": "C",
          "start": 121,
          "startIntronDirection": "+",
          "startIntronOffset": 4563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.-111+4564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:n.-111+4564C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.311C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121803",
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ile98Met",
        "hgvsWellDefined": "NP_001909.3:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081229",
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.294C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Ile98Met",
        "hgvsWellDefined": "NP_001909.4:p.Ile98Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.294C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.294C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ile98Met"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ile98Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.-250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:n.-250C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 4564,
          "referenceAllele": "C",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 4563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.265+4564C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.308C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.308C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "referenceAllele": "C",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.308C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}