{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368368943",
  "communityStandardTitle": [
    "NM_000777.5(CYP3A5):c.158A>T (p.Tyr53Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99273745T>A?assembly=hg19",
        "id": "chr7:g.99273745T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99676122T>A?assembly=hg38",
        "id": "chr7:g.99676122T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552791",
        "rs": 72552791
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 99676122,
          "referenceAllele": "T",
          "start": 99676121
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99676122T>A",
        "CM000669.2:g.99676122T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 99273745,
          "referenceAllele": "T",
          "start": 99273744
        }
      ],
      "hgvs": [
        "NC_000007.13:g.99273745T>A",
        "CM000669.1:g.99273745T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 99111681,
          "referenceAllele": "T",
          "start": 99111680
        }
      ],
      "hgvs": [
        "NC_000007.12:g.99111681T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8877,
          "referenceAllele": "A",
          "start": 8876
        }
      ],
      "hgvs": [
        "NG_007938.1:g.8877A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8877,
          "referenceAllele": "A",
          "start": 8876
        }
      ],
      "hgvs": [
        "NG_007938.2:g.8877A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733315"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000439761.3:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401269.1:p.Tyr53Phe",
        "hgvsWellDefined": "ENSP00000401269.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000646887.1:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496704.1:p.Tyr53Phe",
        "hgvsWellDefined": "ENSP00000496704.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000222982.8:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222982.4:p.Tyr53Phe",
        "hgvsWellDefined": "ENSP00000222982.4:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222982.8:c.158A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000777.5:c.158A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222982.4:p.Tyr53Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000768.1:p.Tyr53Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "A",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000339843.6:c.*406A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343074.2:n.*406A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000439761.1:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401269.1:p.Tyr53Phe",
        "hgvsWellDefined": "ENSP00000401269.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000456417.5:c.*298A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415399.1:n.*298A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000461920.5:n.618A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "A",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000463364.5:n.228A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000463907.5:n.258A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000466061.5:n.258A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "A",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000469622.5:n.255A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "A",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000469887.5:n.455A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000480723.5:n.215A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000481825.5:n.626A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "A",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "ENST00000489231.1:n.255A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453327",
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_000777.4:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000768.1:p.Tyr53Phe",
        "hgvsWellDefined": "NP_000768.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001190484.2:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177413.1:p.Tyr53Phe",
        "hgvsWellDefined": "NP_001177413.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291829.1:c.-314A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278758.1:n.-314A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "A",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291830.1:c.128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278759.1:p.Tyr43Phe",
        "hgvsWellDefined": "NP_001278759.1:p.Tyr43Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NR_033807.2:n.656A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "A",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_006715859.2:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715922.1:p.Tyr53Phe",
        "hgvsWellDefined": "XP_006715922.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "A",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515843.1:c.-332A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514145.1:n.-332A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515844.1:c.-290A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514146.1:n.-290A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515845.1:c.-524A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514147.1:n.-524A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515846.1:c.-392A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514148.1:n.-392A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XM_011515847.1:c.-632A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514149.1:n.-632A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "XR_927383.1:n.283A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "endIntronDirection": "-",
          "endIntronOffset": 47352,
          "referenceAllele": "T",
          "start": 1466,
          "startIntronDirection": "-",
          "startIntronOffset": 47353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021961",
      "geneNCBI_id": 221785,
      "geneSymbol": "ZSCAN25",
      "hgvs": [
        "XR_927402.1:n.1467-47353T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453327",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_000777.5:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000768.1:p.Tyr53Phe",
        "hgvsWellDefined": "NP_000768.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222982.8:c.158A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000777.5:c.158A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222982.4:p.Tyr53Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000768.1:p.Tyr53Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "endIntronDirection": "-",
          "endIntronOffset": 47352,
          "referenceAllele": "T",
          "start": 1465,
          "startIntronDirection": "-",
          "startIntronOffset": 47353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021961",
      "geneNCBI_id": 221785,
      "geneSymbol": "ZSCAN25",
      "hgvs": [
        "XR_927402.2:n.1466-47353T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001190484.3:c.158A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177413.1:p.Tyr53Phe",
        "hgvsWellDefined": "NP_001177413.1:p.Tyr53Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291829.2:c.-314A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278758.1:n.-314A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NM_001291830.2:c.128A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278759.1:p.Tyr43Phe",
        "hgvsWellDefined": "NP_001278759.1:p.Tyr43Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002638",
      "geneNCBI_id": 1577,
      "geneSymbol": "CYP3A5",
      "hgvs": [
        "NR_033807.3:n.626A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702171"
    }
  ],
  "type": "nucleotide"
}