{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1729184591",
  "communityStandardTitle": [
    "NM_017460.6(CYP3A4):c.286A= (p.Lys96=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3091339",
        "rs": 3091339
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99772622,
          "referenceAllele": "T",
          "start": 99772621
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99772622T=",
        "CM000669.2:g.99772622T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99370245,
          "referenceAllele": "T",
          "start": 99370244
        }
      ],
      "hgvs": [
        "NC_000007.13:g.99370245T=",
        "CM000669.1:g.99370245T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99208181,
          "referenceAllele": "T",
          "start": 99208180
        }
      ],
      "hgvs": [
        "NC_000007.12:g.99208181T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16564,
          "referenceAllele": "A",
          "start": 16563
        }
      ],
      "hgvs": [
        "NG_008421.1:g.16564A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.7:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.3:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651514.1:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498939.1:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.286A="
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.286A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:p.Lys96="
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:p.Lys96="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 4114,
          "referenceAllele": "A",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651783.1:c.58-4115A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498924.1:n.58-4115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "A",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000652018.1:c.139A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498733.1:p.Lys47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.6:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.2:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 4119,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000354593.6:c.72-4120A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346607.2:n.72-4120A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000415003.1:c.325A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397208.1:p.Lys109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000480043.1:n.183A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.2:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073444069",
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.5:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515841.1:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514143.1:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515842.1:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514144.1:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073444069",
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.6:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.286A="
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.286A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:p.Lys96="
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:p.Lys96="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.3:c.286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:p.Lys96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679729"
    }
  ],
  "type": "nucleotide"
}