{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341192",
  "communityStandardTitle": [
    "NM_000360.4(TH):c.605G>A (p.Arg202His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5460620"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27366[alleleid]",
        "alleleId": 27366,
        "preferredName": "NM_000360.4(TH):c.605G>A (p.Arg202His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12327",
        "RCV": [
          "RCV000013120",
          "RCV000724645"
        ],
        "variationId": 12327
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2189135-C-T",
        "id": "11-2189135-C-T",
        "variant": "11:2189135 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2189135C>T?assembly=hg19",
        "id": "chr11:g.2189135C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2167905C>T?assembly=hg38",
        "id": "chr11:g.2167905C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338892",
        "rs": 80338892
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2189135-C-T?dataset=gnomad_r2_1",
        "id": "11-2189135-C-T",
        "variant": "11:2189135 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2167905-C-T?dataset=gnomad_r3",
        "id": "11-2167905-C-T",
        "variant": "11:2167905 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2167905-C-T?dataset=gnomad_r4",
        "id": "11-2167905-C-T",
        "variant": "11:2167905 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2167905,
          "referenceAllele": "C",
          "start": 2167904
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2167905C>T",
        "CM000673.2:g.2167905C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2189135,
          "referenceAllele": "C",
          "start": 2189134
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2189135C>T",
        "CM000673.1:g.2189135C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2145711,
          "referenceAllele": "C",
          "start": 2145710
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2145711C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8901,
          "referenceAllele": "G",
          "start": 8900
        }
      ],
      "hgvs": [
        "NG_008128.1:g.8901G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000873"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000352909.8:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325951.4:p.Arg202His",
        "hgvsWellDefined": "ENSP00000325951.4:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352909.8:c.605G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000360.4:c.605G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325951.4:p.Arg202His"
          },
          "RefSeq": {
            "hgvs": "NP_000351.2:p.Arg202His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000324155.8:c.*294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325831.3:n.*294G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000333684.9:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328814.6:p.Arg202His",
        "hgvsWellDefined": "ENSP00000328814.6:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000352909.7:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325951.3:p.Arg202His",
        "hgvsWellDefined": "ENSP00000325951.3:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000381168.7:c.*294G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370560.3:n.*294G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000381175.5:c.686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370567.1:p.Arg229His",
        "hgvsWellDefined": "ENSP00000370567.1:p.Arg229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000381178.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370571.1:p.Arg233His",
        "hgvsWellDefined": "ENSP00000370571.1:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000412076.1:c.45G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000416223.5:c.45G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "ENST00000469226.1:n.354G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341193",
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_000360.3:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000351.2:p.Arg202His",
        "hgvsWellDefined": "NP_000351.2:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109508",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_199292.2:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954986.2:p.Arg233His",
        "hgvsWellDefined": "NP_954986.2:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830434951",
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_199293.2:c.686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954987.2:p.Arg229His",
        "hgvsWellDefined": "NP_954987.2:p.Arg229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "XM_011520335.1:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518637.1:p.Arg206His",
        "hgvsWellDefined": "XP_011518637.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "XM_011520335.2:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518637.1:p.Arg206His",
        "hgvsWellDefined": "XP_011518637.1:p.Arg206His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341193",
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_000360.4:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000351.2:p.Arg202His",
        "hgvsWellDefined": "NP_000351.2:p.Arg202His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352909.8:c.605G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000360.4:c.605G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325951.4:p.Arg202His"
          },
          "RefSeq": {
            "hgvs": "NP_000351.2:p.Arg202His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA109508",
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_199292.3:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954986.2:p.Arg233His",
        "hgvsWellDefined": "NP_954986.2:p.Arg233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830434951",
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011782",
      "geneNCBI_id": 7054,
      "geneSymbol": "TH",
      "hgvs": [
        "NM_199293.3:c.686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954987.2:p.Arg229His",
        "hgvsWellDefined": "NP_954987.2:p.Arg229His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701482"
    }
  ],
  "type": "nucleotide"
}