{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2067679227",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.731G= (p.Arg244=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922602",
        "rs": 193922602
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 120994181,
          "referenceAllele": "G",
          "start": 120994180
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120994181G=",
        "CM000674.2:g.120994181G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 121431984,
          "referenceAllele": "G",
          "start": 121431983
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121431984G=",
        "CM000674.1:g.121431984G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 119916367,
          "referenceAllele": "G",
          "start": 119916366
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119916367G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20436,
          "referenceAllele": "G",
          "start": 20435
        }
      ],
      "hgvs": [
        "NG_011731.2:g.20436G=",
        "LRG_522:g.20436G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.731G="
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.731G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Arg244="
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Arg244="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000400024.6:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476181.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000402929.5:n.866G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 3309,
          "referenceAllele": "G",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000535955.5:n.43-3310G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 3309,
          "referenceAllele": "G",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538626.2:n.191-3310G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538646.5:c.544G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443964.1:p.Glu182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.*171G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.*171G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "endIntronDirection": "+",
          "endIntronOffset": 475,
          "referenceAllele": "G",
          "start": 831,
          "startIntronDirection": "+",
          "startIntronOffset": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541924.5:c.713+475G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440361.1:n.713+475G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 555,
          "referenceAllele": "G",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.633+555G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:n.633+555G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 2435,
          "referenceAllele": "G",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544574.5:c.73-2436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438565.1:n.73-2436G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.874G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 2080,
          "referenceAllele": "G",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.-257-2081G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:n.-257-2081G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 602,
          "referenceAllele": "G",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.586+602G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:n.586+602G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.731G=",
        "LRG_522t1:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "G",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079331095",
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.731G="
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.731G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Arg244="
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Arg244="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.731G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Arg244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}