{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341330332",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=540625[alleleid]",
        "alleleId": 540625,
        "preferredName": "NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551600",
        "RCV": [
          "RCV000666706"
        ],
        "variationId": 551600
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100672015A>C?assembly=hg19",
        "id": "chr1:g.100672015A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100206459A>C?assembly=hg38",
        "id": "chr1:g.100206459A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553229654",
        "rs": 1553229654
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100206459-A-C?dataset=gnomad_r4",
        "id": "1-100206459-A-C",
        "variant": "1:100206459 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100206459,
          "referenceAllele": "A",
          "start": 100206458
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100206459A>C",
        "CM000663.2:g.100206459A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100672015,
          "referenceAllele": "A",
          "start": 100672014
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100672015A>C",
        "CM000663.1:g.100672015A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 100444603,
          "referenceAllele": "A",
          "start": 100444602
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100444603A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48395,
          "referenceAllele": "T",
          "start": 48394
        }
      ],
      "hgvs": [
        "NG_011852.2:g.48395T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.1321T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Ser441Ala",
        "hgvsWellDefined": "ENSP00000505544.1:p.Ser441Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Ser218Ala",
        "hgvsWellDefined": "ENSP00000505780.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.1195T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Ser399Ala",
        "hgvsWellDefined": "ENSP00000359151.3:p.Ser399Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1195T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1195T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ser399Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ser399Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830217",
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "T",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.1195T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ser399Ala",
        "hgvsWellDefined": "NP_001909.3:p.Ser399Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "T",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Ser218Ala",
        "hgvsWellDefined": "XP_005270602.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "T",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Ser218Ala",
        "hgvsWellDefined": "XP_005270603.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "referenceAllele": "T",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Ser218Ala",
        "hgvsWellDefined": "XP_005270602.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "T",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Ser218Ala",
        "hgvsWellDefined": "XP_016855957.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Ser218Ala",
        "hgvsWellDefined": "XP_016855958.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830217",
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.1195T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Ser399Ala",
        "hgvsWellDefined": "NP_001909.3:p.Ser399Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081270",
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.1195T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Ser399Ala",
        "hgvsWellDefined": "NP_001909.4:p.Ser399Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1195T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1195T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Ser399Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Ser399Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "T",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Ser218Ala",
        "hgvsWellDefined": "NP_001386898.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.652T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Ser218Ala",
        "hgvsWellDefined": "NP_001386901.1:p.Ser218Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.1027T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "T",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.1209T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.992T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "T",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.1294T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}