{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411772390",
  "communityStandardTitle": [
    "NM_000106.6(CYP2D6):c.972T>G (p.His324Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42523857A>C?assembly=hg19",
        "id": "chr22:g.42523857A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42127855A>C?assembly=hg38",
        "id": "chr22:g.42127855A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28371724",
        "rs": 28371724
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42127855-A-C?dataset=gnomad_r4",
        "id": "22-42127855-A-C",
        "variant": "22:42127855 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 42127855,
          "referenceAllele": "A",
          "start": 42127854
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42127855A>C",
        "CM000684.2:g.42127855A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 42523857,
          "referenceAllele": "A",
          "start": 42523856
        }
      ],
      "hgvs": [
        "NC_000022.10:g.42523857A>C",
        "CM000684.1:g.42523857A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 40853801,
          "referenceAllele": "A",
          "start": 40853800
        }
      ],
      "hgvs": [
        "NC_000022.9:g.40853801A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7137,
          "referenceAllele": "T",
          "start": 7136
        }
      ],
      "hgvs": [
        "NG_008376.3:g.7137T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7956,
          "referenceAllele": "T",
          "start": 7955
        }
      ],
      "hgvs": [
        "NG_008376.4:g.7956T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "T",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.10:c.770T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.6:n.770T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000645361.2:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496150.1:p.His324Gln",
        "hgvsWellDefined": "ENSP00000496150.1:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.972T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.972T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.His324Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.His324Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000359033.4:c.819T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351927.4:p.His273Gln",
        "hgvsWellDefined": "ENSP00000351927.4:p.His273Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360124.9:c.590T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353241.5:n.590T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "T",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000360608.9:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353820.5:p.His324Gln",
        "hgvsWellDefined": "ENSP00000353820.5:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000389970.7:c.906T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374620.4:p.His302Gln",
        "hgvsWellDefined": "ENSP00000374620.4:p.His302Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "T",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "ENST00000488442.1:n.1696T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088576177",
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.5:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.His324Gln",
        "hgvsWellDefined": "NP_000097.3:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.2:c.819T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.His273Gln",
        "hgvsWellDefined": "NP_001020332.2:p.His273Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "T",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529966.1:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528268.1:p.His324Gln",
        "hgvsWellDefined": "XP_011528268.1:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2321,
          "referenceAllele": "T",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:p.His324Gln",
        "hgvsWellDefined": "XP_011528269.1:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "T",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529968.1:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528270.1:p.His324Gln",
        "hgvsWellDefined": "XP_011528270.1:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "T",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529969.1:c.828T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528271.1:p.His276Gln",
        "hgvsWellDefined": "XP_011528271.1:p.His276Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1976,
          "referenceAllele": "T",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529970.1:c.819T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528272.1:p.His273Gln",
        "hgvsWellDefined": "XP_011528272.1:p.His273Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "T",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529971.1:c.828T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528273.1:p.His276Gln",
        "hgvsWellDefined": "XP_011528273.1:p.His276Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2000,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "T",
          "start": 2000,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529972.1:c.844-221T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528274.1:n.844-221T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088576177",
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_000106.6:c.972T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000097.3:p.His324Gln",
        "hgvsWellDefined": "NP_000097.3:p.His324Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510751",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645361.2:c.972T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000106.6:c.972T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496150.1:p.His324Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000097.3:p.His324Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "T",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "NM_001025161.3:c.819T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020332.2:p.His273Gln",
        "hgvsWellDefined": "NP_001020332.2:p.His273Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675668"
    }
  ],
  "type": "nucleotide"
}