{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343187340",
  "communityStandardTitle": [
    "NM_001002294.3(FMO3):c.828-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224400[alleleid]",
        "alleleId": 3224400,
        "preferredName": "NM_001002294.3(FMO3):c.828-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064195",
        "RCV": [
          "RCV003988783"
        ],
        "variationId": 3064195
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.171083145A>G?assembly=hg19",
        "id": "chr1:g.171083145A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.171114005A>G?assembly=hg38",
        "id": "chr1:g.171114005A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1557946006",
        "rs": 1557946006
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-171114005-A-G?dataset=gnomad_r4",
        "id": "1-171114005-A-G",
        "variant": "1:171114005 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 171114005,
          "referenceAllele": "A",
          "start": 171114004
        }
      ],
      "hgvs": [
        "NC_000001.11:g.171114005A>G",
        "CM000663.2:g.171114005A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 171083145,
          "referenceAllele": "A",
          "start": 171083144
        }
      ],
      "hgvs": [
        "NC_000001.10:g.171083145A>G",
        "CM000663.1:g.171083145A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169349769,
          "referenceAllele": "A",
          "start": 169349768
        }
      ],
      "hgvs": [
        "NC_000001.9:g.169349769A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28128,
          "referenceAllele": "A",
          "start": 28127
        }
      ],
      "hgvs": [
        "NG_012690.1:g.28128A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002516"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "ENST00000367755.9:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356729.4:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367755.9:c.828-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001002294.3:c.828-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356729.4:n.828-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001002294.1:n.828-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 938,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "ENST00000367755.8:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356729.4:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 938,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001002294.2:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002294.1:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_006894.5:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008825.4:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 721,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_005245044.1:c.639-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245101.1:n.639-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1046,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509345.1:c.768-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507647.1:n.768-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509346.1:c.768-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507648.1:n.768-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1048,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319173.1:c.768-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306102.1:n.768-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 749,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319174.1:c.639-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306103.1:n.639-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1069,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1069,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509345.3:c.768-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507647.1:n.768-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_024454365.1:c.81-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310133.1:n.81-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001002294.3:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002294.1:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367755.9:c.828-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001002294.3:c.828-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356729.4:n.828-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001002294.1:n.828-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1020,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319173.2:c.768-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306102.1:n.768-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 721,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319174.2:c.639-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306103.1:n.639-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 893,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_006894.6:c.828-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008825.4:n.828-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696847"
    }
  ],
  "type": "nucleotide"
}