{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124466",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)",
    "NM_022895.3(C12orf43):c.*2998G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29974[alleleid]",
        "alleleId": 29974,
        "preferredName": "NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14935",
        "RCV": [
          "RCV000016072",
          "RCV002250352",
          "RCV002298445"
        ],
        "variationId": 14935
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121438958C>T?assembly=hg19",
        "id": "chr12:g.121438958C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121001155C>T?assembly=hg38",
        "id": "chr12:g.121001155C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853241",
        "rs": 137853241
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 121001155,
          "referenceAllele": "C",
          "start": 121001154
        }
      ],
      "hgvs": [
        "NC_000012.12:g.121001155C>T",
        "CM000674.2:g.121001155C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 121438958,
          "referenceAllele": "C",
          "start": 121438957
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121438958C>T",
        "CM000674.1:g.121438958C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 119923341,
          "referenceAllele": "C",
          "start": 119923340
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119923341C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27410,
          "referenceAllele": "C",
          "start": 27409
        }
      ],
      "hgvs": [
        "NG_011731.2:g.27410C>T",
        "LRG_522:g.27410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.*606C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:n.*606C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Thr620Ile",
        "hgvsWellDefined": "ENSP00000257555.5:p.Thr620Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.1859C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.1859C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Thr620Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Thr620Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Thr620Ile",
        "hgvsWellDefined": "ENSP00000257555.4:p.Thr620Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025719",
      "geneNCBI_id": 64897,
      "geneSymbol": "C12orf43",
      "hgvs": [
        "ENST00000288757.7:c.*2998G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288757.5:n.*2998G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288757.7:c.*2998G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022895.3:c.*2998G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288757.5:n.*2998G>A"
          },
          "RefSeq": {
            "hgvs": "NP_075046.1:n.*2998G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.*1299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.*1299C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.1952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Thr651Ile",
        "hgvsWellDefined": "ENSP00000443112.1:p.Thr651Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.1322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:p.Thr441Ile",
        "hgvsWellDefined": "ENSP00000439721.2:p.Thr441Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.1880C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Thr627Ile",
        "hgvsWellDefined": "ENSP00000438804.1:p.Thr627Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.1676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.647C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:p.Thr216Ile",
        "hgvsWellDefined": "ENSP00000483994.1:p.Thr216Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.*268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:n.*268C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124468",
      "coordinates": [
        {
          "allele": "T",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.1859C>T",
        "LRG_522t1:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Thr620Ile",
        "hgvsWellDefined": "NP_000536.5:p.Thr620Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124468",
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Thr620Ile",
        "hgvsWellDefined": "NP_000536.5:p.Thr620Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.1880C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Thr627Ile",
        "hgvsWellDefined": "NP_001293108.1:p.Thr627Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2934,
          "referenceAllele": "C",
          "start": 2933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.1952C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Thr651Ile",
        "hgvsWellDefined": "XP_005253988.1:p.Thr651Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3038,
          "referenceAllele": "C",
          "start": 3037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.1952C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Thr651Ile",
        "hgvsWellDefined": "XP_024304936.1:p.Thr651Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207736",
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.1859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Thr620Ile",
        "hgvsWellDefined": "NP_000536.6:p.Thr620Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.1859C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.1859C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Thr620Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Thr620Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3893,
          "referenceAllele": "G",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025719",
      "geneNCBI_id": 64897,
      "geneSymbol": "C12orf43",
      "hgvs": [
        "NM_001286191.2:c.*2998G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273120.1:n.*2998G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3767,
          "referenceAllele": "G",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025719",
      "geneNCBI_id": 64897,
      "geneSymbol": "C12orf43",
      "hgvs": [
        "NM_001286196.2:c.*2998G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273125.1:n.*2998G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020469",
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.1880C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Thr627Ile",
        "hgvsWellDefined": "NP_001293108.2:p.Thr627Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "G",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025719",
      "geneNCBI_id": 64897,
      "geneSymbol": "C12orf43",
      "hgvs": [
        "NM_022895.3:c.*2998G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_075046.1:n.*2998G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698605",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288757.7:c.*2998G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022895.3:c.*2998G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288757.5:n.*2998G>A"
          },
          "RefSeq": {
            "hgvs": "NP_075046.1:n.*2998G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}