{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA969605",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.964T>C (p.Phe322Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1390816[alleleid]",
        "alleleId": 1390816,
        "preferredName": "NM_001918.5(DBT):c.964T>C (p.Phe322Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1445985",
        "RCV": [
          "RCV001992718"
        ],
        "variationId": 1445985
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100676303-A-G",
        "id": "1-100676303-A-G",
        "variant": "1:100676303 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100676303A>G?assembly=hg19",
        "id": "chr1:g.100676303A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100210747A>G?assembly=hg38",
        "id": "chr1:g.100210747A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148571335",
        "rs": 148571335
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100676303-A-G?dataset=gnomad_r2_1",
        "id": "1-100676303-A-G",
        "variant": "1:100676303 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100210747-A-G?dataset=gnomad_r3",
        "id": "1-100210747-A-G",
        "variant": "1:100210747 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100210747-A-G?dataset=gnomad_r4",
        "id": "1-100210747-A-G",
        "variant": "1:100210747 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100210747,
          "referenceAllele": "A",
          "start": 100210746
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100210747A>G",
        "CM000663.2:g.100210747A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100676303,
          "referenceAllele": "A",
          "start": 100676302
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100676303A>G",
        "CM000663.1:g.100676303A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 100448891,
          "referenceAllele": "A",
          "start": 100448890
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100448891A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44107,
          "referenceAllele": "T",
          "start": 44106
        }
      ],
      "hgvs": [
        "NG_011852.2:g.44107T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "T",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.1090T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Phe364Leu",
        "hgvsWellDefined": "ENSP00000505544.1:p.Phe364Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Phe141Leu",
        "hgvsWellDefined": "ENSP00000505780.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370131.3:c.1317T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359150.3:n.1317T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.964T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Phe322Leu",
        "hgvsWellDefined": "ENSP00000359151.3:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.964T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.964T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Phe322Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Phe322Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.964T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Phe322Leu",
        "hgvsWellDefined": "NP_001909.3:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Phe141Leu",
        "hgvsWellDefined": "XP_005270602.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Phe141Leu",
        "hgvsWellDefined": "XP_005270603.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "T",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.1:n.1069T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Phe141Leu",
        "hgvsWellDefined": "XP_005270602.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Phe141Leu",
        "hgvsWellDefined": "XP_016855957.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Phe141Leu",
        "hgvsWellDefined": "XP_016855958.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "T",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XR_946560.3:n.1066T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.964T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Phe322Leu",
        "hgvsWellDefined": "NP_001909.3:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573224120",
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.964T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Phe322Leu",
        "hgvsWellDefined": "NP_001909.4:p.Phe322Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.964T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.964T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Phe322Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Phe322Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "T",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Phe141Leu",
        "hgvsWellDefined": "NP_001386898.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "T",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.421T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Phe141Leu",
        "hgvsWellDefined": "NP_001386901.1:p.Phe141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "T",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.796T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.978T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "referenceAllele": "T",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.761T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "referenceAllele": "T",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.1063T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}