{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1729177793",
  "communityStandardTitle": [
    "NM_017460.6(CYP3A4):c.1026+608C>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4646440",
        "rs": 4646440
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99763247,
          "referenceAllele": "G",
          "start": 99763246
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99763247G>T",
        "CM000669.2:g.99763247G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99360870,
          "referenceAllele": "G",
          "start": 99360869
        }
      ],
      "hgvs": [
        "NC_000007.13:g.99360870G>T",
        "CM000669.1:g.99360870G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99198806,
          "referenceAllele": "G",
          "start": 99198805
        }
      ],
      "hgvs": [
        "NC_000007.12:g.99198806G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25939,
          "referenceAllele": "C",
          "start": 25938
        }
      ],
      "hgvs": [
        "NG_008421.1:g.25939C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1129,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.7:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.3:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651162.1:n.461+608C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1129,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651514.1:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498939.1:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.1026+608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.1026+608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:n.1026+608C>A"
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:n.1026+608C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 567,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651783.1:c.567+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498924.1:n.567+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1046,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000652018.1:c.879+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498733.1:n.879+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1210,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.6:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.2:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 683,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 683,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000354593.6:c.576+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346607.2:n.576+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.2:c.1023+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:n.1023+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1133,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.5:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1131,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515841.1:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514143.1:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1128,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515842.1:c.1023+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514144.1:n.1023+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1129,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.6:c.1026+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:n.1026+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.1026+608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.1026+608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:n.1026+608C>A"
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:n.1026+608C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "endIntronDirection": "+",
          "endIntronOffset": 608,
          "referenceAllele": "C",
          "start": 1126,
          "startIntronDirection": "+",
          "startIntronOffset": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.3:c.1023+608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:n.1023+608C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679729"
    }
  ],
  "type": "nucleotide"
}