{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341337383",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.872G>T (p.Arg291Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=446938[alleleid]",
        "alleleId": 446938,
        "preferredName": "NM_001918.5(DBT):c.872G>T (p.Arg291Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/457147",
        "RCV": [
          "RCV000535685",
          "RCV001844190"
        ],
        "variationId": 457147
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100680440C>A?assembly=hg19",
        "id": "chr1:g.100680440C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100214884C>A?assembly=hg38",
        "id": "chr1:g.100214884C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775808731",
        "rs": 775808731
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100680440-C-A?dataset=gnomad_r2_1",
        "id": "1-100680440-C-A",
        "variant": "1:100680440 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100214884-C-A?dataset=gnomad_r3",
        "id": "1-100214884-C-A",
        "variant": "1:100214884 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100214884-C-A?dataset=gnomad_r4",
        "id": "1-100214884-C-A",
        "variant": "1:100214884 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100214884,
          "referenceAllele": "C",
          "start": 100214883
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100214884C>A",
        "CM000663.2:g.100214884C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100680440,
          "referenceAllele": "C",
          "start": 100680439
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100680440C>A",
        "CM000663.1:g.100680440C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100453028,
          "referenceAllele": "C",
          "start": 100453027
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100453028C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39970,
          "referenceAllele": "G",
          "start": 39969
        }
      ],
      "hgvs": [
        "NG_011852.2:g.39970G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Arg291Leu",
        "hgvsWellDefined": "ENSP00000505544.1:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Arg110Leu",
        "hgvsWellDefined": "ENSP00000505780.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370131.3:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359150.3:p.Arg291Leu",
        "hgvsWellDefined": "ENSP00000359150.3:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Arg291Leu",
        "hgvsWellDefined": "ENSP00000359151.3:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.872G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.872G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Arg291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Arg291Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663403",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Arg291Leu",
        "hgvsWellDefined": "NP_001909.3:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Arg110Leu",
        "hgvsWellDefined": "XP_005270602.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Arg110Leu",
        "hgvsWellDefined": "XP_005270603.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.1:n.892G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Arg110Leu",
        "hgvsWellDefined": "XP_005270602.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Arg110Leu",
        "hgvsWellDefined": "XP_016855957.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Arg110Leu",
        "hgvsWellDefined": "XP_016855958.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.889G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663403",
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Arg291Leu",
        "hgvsWellDefined": "NP_001909.3:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081250",
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Arg291Leu",
        "hgvsWellDefined": "NP_001909.4:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.872G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.872G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Arg291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Arg291Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Arg110Leu",
        "hgvsWellDefined": "NP_001386898.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.329G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Arg110Leu",
        "hgvsWellDefined": "NP_001386901.1:p.Arg110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.704G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.886G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.669G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.886G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}