{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4368709",
  "communityStandardTitle": [
    "NM_000777.5(CYP3A5):c.245T>G (p.Leu82Arg)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-99270276-A-C",
        "id": "7-99270276-A-C",
        "variant": "7:99270276 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99270276A>C?assembly=hg19",
        "id": "chr7:g.99270276A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99672653A>C?assembly=hg38",
        "id": "chr7:g.99672653A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/56244447",
        "rs": 56244447
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99270276-A-C?dataset=gnomad_r2_1",
        "id": "7-99270276-A-C",
        "variant": "7:99270276 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99672653-A-C?dataset=gnomad_r3",
        "id": "7-99672653-A-C",
        "variant": "7:99672653 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99672653-A-C?dataset=gnomad_r4",
        "id": "7-99672653-A-C",
        "variant": "7:99672653 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 99672653,
          "referenceAllele": "A",
          "start": 99672652
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99672653A>C",
        "CM000669.2:g.99672653A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 99270276,
          "referenceAllele": "A",
          "start": 99270275
        }
      ],
      "hgvs": [
        "NC_000007.13:g.99270276A>C",
        "CM000669.1:g.99270276A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 99108212,
          "referenceAllele": "A",
          "start": 99108211
        }
      ],
      "hgvs": [
        "NC_000007.12:g.99108212A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12346,
          "referenceAllele": "T",
          "start": 12345
        }
      ],
      "hgvs": [
        "NG_007938.1:g.12346T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12346,
          "referenceAllele": "T",
          "start": 12345
        }
      ],
      "hgvs": [
        "NG_007938.2:g.12346T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733315"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000439761.3:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401269.1:p.Leu82Arg",
        "hgvsWellDefined": "ENSP00000401269.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000646887.1:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496704.1:p.Leu82Arg",
        "hgvsWellDefined": "ENSP00000496704.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000222982.8:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222982.4:p.Leu82Arg",
        "hgvsWellDefined": "ENSP00000222982.4:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222982.8:c.245T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000777.5:c.245T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222982.4:p.Leu82Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000768.1:p.Leu82Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "T",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000339843.6:c.*644T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343074.2:n.*644T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000439761.1:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401269.1:p.Leu82Arg",
        "hgvsWellDefined": "ENSP00000401269.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000461920.5:n.837T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000463364.5:n.447T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "T",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000463907.5:n.581T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000466061.5:n.477T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "T",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000469622.5:n.492T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "T",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000469887.5:n.693T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000480723.5:n.302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000481825.5:n.845T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321663"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073450581",
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_000777.4:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000768.1:p.Leu82Arg",
        "hgvsWellDefined": "NP_000768.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001190484.2:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177413.1:p.Leu82Arg",
        "hgvsWellDefined": "NP_001177413.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "T",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291829.1:c.-95T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278758.1:n.-95T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "T",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291830.1:c.215T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278759.1:p.Leu72Arg",
        "hgvsWellDefined": "NP_001278759.1:p.Leu72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NR_033807.2:n.894T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "T",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_006715859.2:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715922.1:p.Leu82Arg",
        "hgvsWellDefined": "XP_006715922.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "T",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515843.1:c.-95T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514145.1:n.-95T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "T",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515844.1:c.-203T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514146.1:n.-203T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515845.1:c.-305T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514147.1:n.-305T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "referenceAllele": "T",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515846.1:c.-305T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514148.1:n.-305T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515847.1:c.-413T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514149.1:n.-413T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XR_927383.1:n.370T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1466,
          "endIntronDirection": "+",
          "endIntronOffset": 48473,
          "referenceAllele": "A",
          "start": 1466,
          "startIntronDirection": "+",
          "startIntronOffset": 48472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021961",
      "geneNCBI_id": 221785,
      "geneSymbol": "ZSCAN25",
      "hgvs": [
        "XR_927402.1:n.1466+48473A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073450581",
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_000777.5:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000768.1:p.Leu82Arg",
        "hgvsWellDefined": "NP_000768.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222982.8:c.245T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000777.5:c.245T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222982.4:p.Leu82Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000768.1:p.Leu82Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1465,
          "endIntronDirection": "+",
          "endIntronOffset": 48473,
          "referenceAllele": "A",
          "start": 1465,
          "startIntronDirection": "+",
          "startIntronOffset": 48472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021961",
      "geneNCBI_id": 221785,
      "geneSymbol": "ZSCAN25",
      "hgvs": [
        "XR_927402.2:n.1465+48473A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001190484.3:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177413.1:p.Leu82Arg",
        "hgvsWellDefined": "NP_001177413.1:p.Leu82Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "T",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291829.2:c.-95T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278758.1:n.-95T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "referenceAllele": "T",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291830.2:c.215T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278759.1:p.Leu72Arg",
        "hgvsWellDefined": "NP_001278759.1:p.Leu72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NR_033807.3:n.864T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702171"
    }
  ],
  "type": "nucleotide"
}