{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8368032",
  "communityStandardTitle": [
    "NM_021628.3(ALOXE3):c.1563-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2524132[alleleid]",
        "alleleId": 2524132,
        "preferredName": "NM_021628.3(ALOXE3):c.1563-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501242",
        "RCV": [
          "RCV003226839"
        ],
        "variationId": 2501242
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-8011909-T-C",
        "id": "17-8011909-T-C",
        "variant": "17:8011909 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8011909T>C?assembly=hg19",
        "id": "chr17:g.8011909T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8108591T>C?assembly=hg38",
        "id": "chr17:g.8108591T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141115577",
        "rs": 141115577
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8108591-T-C?dataset=gnomad_r3",
        "id": "17-8108591-T-C",
        "variant": "17:8108591 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8108591-T-C?dataset=gnomad_r4",
        "id": "17-8108591-T-C",
        "variant": "17:8108591 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8108591,
          "referenceAllele": "T",
          "start": 8108590
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8108591T>C",
        "CM000679.2:g.8108591T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8011909,
          "referenceAllele": "T",
          "start": 8011908
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8011909T>C",
        "CM000679.1:g.8011909T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7952634,
          "referenceAllele": "T",
          "start": 7952633
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7952634T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15326,
          "referenceAllele": "A",
          "start": 15325
        }
      ],
      "hgvs": [
        "NG_015807.1:g.15326A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2227,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000318227.4:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314879.4:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2061,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000380149.6:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369494.2:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000448843.7:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400581.2:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448843.7:c.1563-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_021628.3:c.1563-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400581.2:n.1563-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_067641.2:n.1563-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2227,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000318227.3:c.1959-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314879.3:n.1959-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2061,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000380149.5:c.2031-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369494.1:n.2031-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1903,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000448843.6:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400581.2:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2096,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_001165960.1:c.1959-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159432.1:n.1959-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1932,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_021628.2:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067641.2:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1835,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024921.2:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880410.1:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "endIntronDirection": "+",
          "endIntronOffset": 583,
          "referenceAllele": "A",
          "start": 1835,
          "startIntronDirection": "+",
          "startIntronOffset": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024922.2:c.1562+583A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880411.1:n.1562+583A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024924.2:c.*4-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880413.1:n.*4-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "endIntronDirection": "+",
          "endIntronOffset": 583,
          "referenceAllele": "A",
          "start": 1835,
          "startIntronDirection": "+",
          "startIntronOffset": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XR_001752579.2:n.1835+583A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "endIntronDirection": "+",
          "endIntronOffset": 583,
          "referenceAllele": "A",
          "start": 1746,
          "startIntronDirection": "+",
          "startIntronOffset": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XR_001752580.2:n.1746+583A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_001369446.1:c.1560-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356375.1:n.1560-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_021628.3:c.1563-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_067641.2:n.1563-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448843.7:c.1563-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_021628.3:c.1563-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400581.2:n.1563-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_067641.2:n.1563-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}