{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139922179",
  "communityStandardTitle": [
    "NM_001136018.4(EPHX1):c.416A= (p.His139=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2234922",
        "rs": 2234922
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 225838705,
          "referenceAllele": "A",
          "start": 225838704
        }
      ],
      "hgvs": [
        "NC_000001.11:g.225838705A=",
        "CM000663.2:g.225838705A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 226026406,
          "referenceAllele": "A",
          "start": 226026405
        }
      ],
      "hgvs": [
        "NC_000001.10:g.226026406A=",
        "CM000663.1:g.226026406A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 224093029,
          "referenceAllele": "A",
          "start": 224093028
        }
      ],
      "hgvs": [
        "NC_000001.9:g.224093029A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33610,
          "referenceAllele": "A",
          "start": 33609
        }
      ],
      "hgvs": [
        "NG_009776.1:g.33610A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000272167.10:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272167.5:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272167.10:c.416A="
          },
          "RefSeq": {
            "hgvs": "NM_001136018.4:c.416A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272167.5:p.His139="
          },
          "RefSeq": {
            "hgvs": "NP_001129490.1:p.His139="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000272167.9:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272167.5:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000366837.5:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355802.4:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000445856.5:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398491.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000614058.4:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480004.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876938",
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "A",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_000120.3:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000111.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001136018.3:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129490.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "A",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001291163.1:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278092.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876938",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_000120.4:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000111.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001136018.4:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129490.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712479",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272167.10:c.416A="
          },
          "RefSeq": {
            "hgvs": "NM_001136018.4:c.416A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272167.5:p.His139="
          },
          "RefSeq": {
            "hgvs": "NP_001129490.1:p.His139="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001291163.2:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278092.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "A",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378426.1:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365355.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378427.1:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365356.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378428.1:c.389A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365357.1:p.His130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378429.1:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365358.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378430.1:c.416A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365359.1:p.His139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 511,
          "referenceAllele": "A",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378431.1:c.365-512A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365360.1:n.365-512A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 3660,
          "referenceAllele": "A",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378432.1:c.365-3661A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365361.1:n.365-3661A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 3708,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165624.1:n.370-3709A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165625.1:n.467A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "A",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165626.1:n.913A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165627.1:n.612A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731741"
    }
  ],
  "type": "nucleotide"
}