{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9731999",
  "communityStandardTitle": [
    "NM_198994.3(TGM6):c.1170C>T (p.Phe390=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1318852",
        "active": true,
        "id": "COSM1318852"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=885905[alleleid]",
        "alleleId": 885905,
        "preferredName": "NM_198994.3(TGM6):c.1170C>T (p.Phe390=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897277",
        "RCV": [
          "RCV001140464",
          "RCV003558707"
        ],
        "variationId": 897277
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-2384303-C-T",
        "id": "20-2384303-C-T",
        "variant": "20:2384303 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2384303C>T?assembly=hg19",
        "id": "chr20:g.2384303C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2403657C>T?assembly=hg38",
        "id": "chr20:g.2403657C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765423180",
        "rs": 765423180
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2384303-C-T?dataset=gnomad_r2_1",
        "id": "20-2384303-C-T",
        "variant": "20:2384303 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2403657-C-T?dataset=gnomad_r3",
        "id": "20-2403657-C-T",
        "variant": "20:2403657 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2403657-C-T?dataset=gnomad_r4",
        "id": "20-2403657-C-T",
        "variant": "20:2403657 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403657,
          "referenceAllele": "C",
          "start": 2403656
        }
      ],
      "hgvs": [
        "NC_000020.11:g.2403657C>T",
        "CM000682.2:g.2403657C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2384303,
          "referenceAllele": "C",
          "start": 2384302
        }
      ],
      "hgvs": [
        "NC_000020.10:g.2384303C>T",
        "CM000682.1:g.2384303C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2332303,
          "referenceAllele": "C",
          "start": 2332302
        }
      ],
      "hgvs": [
        "NC_000020.9:g.2332303C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27750,
          "referenceAllele": "C",
          "start": 27749
        }
      ],
      "hgvs": [
        "NG_031917.1:g.27750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.7:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000202625.2:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000202625.7:c.1170C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.1170C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Phe390="
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Phe390="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.6:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000202625.2:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000381423.1:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370831.1:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365542",
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.1:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830462206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.2:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365542",
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.2:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830462206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.3:c.1170C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Phe390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000202625.7:c.1170C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.1170C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Phe390="
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Phe390="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}