{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2067672694",
  "communityStandardTitle": [
    "NM_000545.8(HNF1A):c.365A= (p.Tyr122=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853237",
        "rs": 137853237
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 120988871,
          "referenceAllele": "A",
          "start": 120988870
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120988871A=",
        "CM000674.2:g.120988871A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 121426674,
          "referenceAllele": "A",
          "start": 121426673
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121426674A=",
        "CM000674.1:g.121426674A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 119911057,
          "referenceAllele": "A",
          "start": 119911056
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119911057A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15126,
          "referenceAllele": "A",
          "start": 15125
        }
      ],
      "hgvs": [
        "NG_011731.2:g.15126A=",
        "LRG_522:g.15126A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.6:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453965.2:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.11:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.5:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.365A="
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.365A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Tyr122="
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Tyr122="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000257555.10:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257555.4:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000400024.6:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476181.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "A",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000402929.5:n.500A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 8619,
          "referenceAllele": "A",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 8620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000535955.5:n.43-8620A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 8619,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 8620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538626.2:n.191-8620A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000538646.5:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443964.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 4648,
          "referenceAllele": "A",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 4649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000540108.1:c.327-4649A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445445.1:n.327-4649A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541395.5:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443112.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000541924.5:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440361.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000543427.5:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439721.2:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "A",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544413.2:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438804.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 7745,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 7746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000544574.5:c.73-7746A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438565.1:n.73-7746A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000560968.5:c.508A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 7390,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 7391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000615446.4:c.-257-7391A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483994.1:n.-257-7391A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "ENST00000617366.4:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481967.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "A",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.5:c.365A=",
        "LRG_522t1:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.6:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.5:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.1:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "A",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_005253931.2:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253988.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "A",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "XM_024449168.1:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304936.1:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289875",
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_000545.8:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000536.6:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674886",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257555.11:c.365A="
          },
          "RefSeq": {
            "hgvs": "NM_000545.8:c.365A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257555.5:p.Tyr122="
          },
          "RefSeq": {
            "hgvs": "NP_000536.6:p.Tyr122="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NM_001306179.2:c.365A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293108.2:p.Tyr122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683864"
    }
  ],
  "type": "nucleotide"
}