{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2037368043",
  "communityStandardTitle": [
    "NM_001136023.3(NFE2):c.115-67T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10506328",
        "rs": 10506328
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-54293448-A-G?dataset=gnomad_r4",
        "id": "12-54293448-A-G",
        "variant": "12:54293448 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 54293448,
          "referenceAllele": "A",
          "start": 54293447
        }
      ],
      "hgvs": [
        "NC_000012.12:g.54293448A>G",
        "CM000674.2:g.54293448A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 54687232,
          "referenceAllele": "A",
          "start": 54687231
        }
      ],
      "hgvs": [
        "NC_000012.11:g.54687232A>G",
        "CM000674.1:g.54687232A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52973499,
          "referenceAllele": "A",
          "start": 52973498
        }
      ],
      "hgvs": [
        "NC_000012.10:g.52973499A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000435572.7:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397185.2:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435572.7:c.115-67T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001136023.3:c.115-67T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000397185.2:n.115-67T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001129495.1:n.115-67T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000312156.8:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312436.4:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 491,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000435572.6:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397185.2:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 624,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000540264.2:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439120.2:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000553070.5:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447558.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "ENST00000553198.1:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446929.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 407,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001136023.2:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129495.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001261461.1:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248390.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 406,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_006163.2:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006154.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 264,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 264,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "XM_005268906.3:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268963.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "XM_011538397.1:c.82-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536699.1:n.82-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 257,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 257,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "XM_005268906.4:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268963.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001136023.3:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129495.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435572.7:c.115-67T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001136023.3:c.115-67T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000397185.2:n.115-67T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001129495.1:n.115-67T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001261461.2:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248390.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_006163.3:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006154.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 355,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001400365.1:c.115-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387294.1:n.115-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001400372.1:c.-189-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387301.1:n.-189-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "T",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007780",
      "geneNCBI_id": 4778,
      "geneSymbol": "NFE2",
      "hgvs": [
        "NM_001400373.1:c.-189-67T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387302.1:n.-189-67T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783724"
    }
  ],
  "type": "nucleotide"
}