{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397991860",
  "communityStandardTitle": [
    "NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983410[alleleid]",
        "alleleId": 983410,
        "preferredName": "NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995737",
        "RCV": [
          "RCV001289944",
          "RCV003492244"
        ],
        "variationId": 995737
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7980322G>A?assembly=hg19",
        "id": "chr17:g.7980322G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8077004G>A?assembly=hg38",
        "id": "chr17:g.8077004G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1977099347",
        "rs": 1977099347
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8077004,
          "referenceAllele": "G",
          "start": 8077003
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8077004G>A",
        "CM000679.2:g.8077004G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7980322,
          "referenceAllele": "G",
          "start": 7980321
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7980322G>A",
        "CM000679.1:g.7980322G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7921047,
          "referenceAllele": "G",
          "start": 7921046
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7921047G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15700,
          "referenceAllele": "C",
          "start": 15699
        }
      ],
      "hgvs": [
        "NG_007099.1:g.15700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15713,
          "referenceAllele": "C",
          "start": 15712
        }
      ],
      "hgvs": [
        "NG_007099.2:g.15713C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616068"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000647874.1:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497784.1:p.His421Tyr",
        "hgvsWellDefined": "ENSP00000497784.1:p.His421Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647874.1:c.1261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001139.3:c.1261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497784.1:p.His421Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001130.1:p.His421Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000649809.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496845.1:p.His109Tyr",
        "hgvsWellDefined": "ENSP00000496845.1:p.His109Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000319144.4:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315167.4:p.His421Tyr",
        "hgvsWellDefined": "ENSP00000315167.4:p.His421Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000577351.5:n.208C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000583276.5:n.645C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "ENST00000584116.1:n.517C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NM_001139.2:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130.1:p.His421Tyr",
        "hgvsWellDefined": "NP_001130.1:p.His421Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000430",
      "geneNCBI_id": 242,
      "geneSymbol": "ALOX12B",
      "hgvs": [
        "NM_001139.3:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001130.1:p.His421Tyr",
        "hgvsWellDefined": "NP_001130.1:p.His421Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511538",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647874.1:c.1261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001139.3:c.1261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497784.1:p.His421Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001130.1:p.His421Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}