{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2246125736",
  "communityStandardTitle": [
    "NM_001139.3(ALOX12B):c.1562A= (p.Tyr521=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199766569",
        "rs": 199766569
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 8075687,
          "referenceAllele": "T",
          "start": 8075686
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8075687T=",
        "CM000679.2:g.8075687T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7979005,
          "referenceAllele": "T",
          "start": 7979004
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7979005T=",
        "CM000679.1:g.7979005T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7919730,
          "referenceAllele": "T",
          "start": 7919729
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7919730T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17017,
          "referenceAllele": "A",
          "start": 17016
        }
      ],
      "hgvs": [
        "NG_007099.1:g.17017A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17030,
          "referenceAllele": "A",
          "start": 17029
        }
      ],
      "hgvs": [
        "NG_007099.2:g.17030A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616068"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "A",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000647874.1:c.1562A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497784.1:p.Tyr521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647874.1:c.1562A="
          },
          "RefSeq": {
            "hgvs": "NM_001139.3:c.1562A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497784.1:p.Tyr521="
          },
          "RefSeq": {
            "hgvs": "NP_001130.1:p.Tyr521="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000649809.1:c.626A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496845.1:p.Tyr209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000319144.4:c.1562A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315167.4:p.Tyr521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000577351.5:n.479+488A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384822"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084022399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NM_001139.2:c.1562A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001130.1:p.Tyr521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084022399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "A",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NM_001139.3:c.1562A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001130.1:p.Tyr521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511538",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647874.1:c.1562A="
          },
          "RefSeq": {
            "hgvs": "NM_001139.3:c.1562A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497784.1:p.Tyr521="
          },
          "RefSeq": {
            "hgvs": "NP_001130.1:p.Tyr521="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}