{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1240575",
  "communityStandardTitle": [
    "NM_001002294.3(FMO3):c.560T>G (p.Val187Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3257334[alleleid]",
        "alleleId": 3257334,
        "preferredName": "NM_001002294.3(FMO3):c.560T>G (p.Val187Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3095894",
        "RCV": [
          "RCV004389692"
        ],
        "variationId": 3095894
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-171077295-T-G",
        "id": "1-171077295-T-G",
        "variant": "1:171077295 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.171077295T>G?assembly=hg19",
        "id": "chr1:g.171077295T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.171108154T>G?assembly=hg38",
        "id": "chr1:g.171108154T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769983049",
        "rs": 769983049
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-171077295-T-G?dataset=gnomad_r2_1",
        "id": "1-171077295-T-G",
        "variant": "1:171077295 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-171108154-T-G?dataset=gnomad_r3",
        "id": "1-171108154-T-G",
        "variant": "1:171108154 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-171108154-T-G?dataset=gnomad_r4",
        "id": "1-171108154-T-G",
        "variant": "1:171108154 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 171108154,
          "referenceAllele": "T",
          "start": 171108153
        }
      ],
      "hgvs": [
        "NC_000001.11:g.171108154T>G",
        "CM000663.2:g.171108154T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 171077295,
          "referenceAllele": "T",
          "start": 171077294
        }
      ],
      "hgvs": [
        "NC_000001.10:g.171077295T>G",
        "CM000663.1:g.171077295T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169343919,
          "referenceAllele": "T",
          "start": 169343918
        }
      ],
      "hgvs": [
        "NC_000001.9:g.169343919T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22278,
          "referenceAllele": "T",
          "start": 22277
        }
      ],
      "hgvs": [
        "NG_012690.1:g.22278T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002516"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "ENST00000367755.9:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356729.4:p.Val187Gly",
        "hgvsWellDefined": "ENSP00000356729.4:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367755.9:c.560T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001002294.3:c.560T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356729.4:p.Val187Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001002294.1:p.Val187Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "ENST00000367755.8:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356729.4:p.Val187Gly",
        "hgvsWellDefined": "ENSP00000356729.4:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "ENST00000479749.1:c.506T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477451.1:p.Val169Gly",
        "hgvsWellDefined": "ENSP00000477451.1:p.Val169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825253260",
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001002294.2:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002294.1:p.Val187Gly",
        "hgvsWellDefined": "NP_001002294.1:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829665156",
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_006894.5:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008825.4:p.Val187Gly",
        "hgvsWellDefined": "NP_008825.4:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_005245044.1:c.371T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245101.1:p.Val124Gly",
        "hgvsWellDefined": "XP_005245101.1:p.Val124Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509345.1:c.500T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507647.1:p.Val167Gly",
        "hgvsWellDefined": "XP_011507647.1:p.Val167Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "T",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509346.1:c.500T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507648.1:p.Val167Gly",
        "hgvsWellDefined": "XP_011507648.1:p.Val167Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033819",
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "referenceAllele": "T",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319173.1:c.500T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306102.1:p.Val167Gly",
        "hgvsWellDefined": "NP_001306102.1:p.Val167Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033943",
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319174.1:c.371T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306103.1:p.Val124Gly",
        "hgvsWellDefined": "NP_001306103.1:p.Val124Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "T",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_011509345.3:c.500T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507647.1:p.Val167Gly",
        "hgvsWellDefined": "XP_011507647.1:p.Val167Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "referenceAllele": "T",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "XM_024454365.1:c.13T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310133.1:p.Ser5Ala",
        "hgvsWellDefined": "XP_024310133.1:p.Ser5Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825253260",
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001002294.3:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002294.1:p.Val187Gly",
        "hgvsWellDefined": "NP_001002294.1:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367755.9:c.560T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001002294.3:c.560T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356729.4:p.Val187Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001002294.1:p.Val187Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033819",
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "referenceAllele": "T",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319173.2:c.500T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306102.1:p.Val167Gly",
        "hgvsWellDefined": "NP_001306102.1:p.Val167Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827033943",
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_001319174.2:c.371T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306103.1:p.Val124Gly",
        "hgvsWellDefined": "NP_001306103.1:p.Val124Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829665156",
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "T",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003771",
      "geneNCBI_id": 2328,
      "geneSymbol": "FMO3",
      "hgvs": [
        "NM_006894.6:c.560T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008825.4:p.Val187Gly",
        "hgvsWellDefined": "NP_008825.4:p.Val187Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696847"
    }
  ],
  "type": "nucleotide"
}