{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139849578",
  "communityStandardTitle": [
    "NM_001136018.4(EPHX1):c.337T= (p.Tyr113=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1051740",
        "rs": 1051740
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 225831932,
          "referenceAllele": "T",
          "start": 225831931
        }
      ],
      "hgvs": [
        "NC_000001.11:g.225831932T=",
        "CM000663.2:g.225831932T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 226019633,
          "referenceAllele": "T",
          "start": 226019632
        }
      ],
      "hgvs": [
        "NC_000001.10:g.226019633T=",
        "CM000663.1:g.226019633T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 224086256,
          "referenceAllele": "T",
          "start": 224086255
        }
      ],
      "hgvs": [
        "NC_000001.9:g.224086256T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26837,
          "referenceAllele": "T",
          "start": 26836
        }
      ],
      "hgvs": [
        "NG_009776.1:g.26837T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000272167.10:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272167.5:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272167.10:c.337T="
          },
          "RefSeq": {
            "hgvs": "NM_001136018.4:c.337T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272167.5:p.Tyr113="
          },
          "RefSeq": {
            "hgvs": "NP_001129490.1:p.Tyr113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "T",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000272167.9:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272167.5:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000366837.5:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355802.4:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "T",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000445856.5:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398491.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000448202.5:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408469.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000467015.1:n.224T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "T",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "ENST00000614058.4:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480004.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874142",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_000120.3:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000111.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "T",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001136018.3:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129490.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "T",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001291163.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278092.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874142",
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_000120.4:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000111.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001136018.4:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129490.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712479",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272167.10:c.337T="
          },
          "RefSeq": {
            "hgvs": "NM_001136018.4:c.337T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272167.5:p.Tyr113="
          },
          "RefSeq": {
            "hgvs": "NP_001129490.1:p.Tyr113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001291163.2:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278092.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378426.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365355.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378427.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365356.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "T",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378428.1:c.310T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365357.1:p.Tyr104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378429.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365358.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378430.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365359.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378431.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365360.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NM_001378432.1:c.337T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365361.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "T",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165624.1:n.369+19T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165625.1:n.388T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165626.1:n.834T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "T",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NR_165627.1:n.533T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731741"
    }
  ],
  "type": "nucleotide"
}