{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393619183",
  "communityStandardTitle": [
    "NM_000137.4(FAH):c.314+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837628[alleleid]",
        "alleleId": 2837628,
        "preferredName": "NM_000137.4(FAH):c.314+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675367",
        "RCV": [
          "RCV003460114"
        ],
        "variationId": 2675367
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.80452220G>T?assembly=hg19",
        "id": "chr15:g.80452220G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.80159878G>T?assembly=hg38",
        "id": "chr15:g.80159878G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516408",
        "rs": 1057516408
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 80159878,
          "referenceAllele": "G",
          "start": 80159877
        }
      ],
      "hgvs": [
        "NC_000015.10:g.80159878G>T",
        "CM000677.2:g.80159878G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 80452220,
          "referenceAllele": "G",
          "start": 80452219
        }
      ],
      "hgvs": [
        "NC_000015.9:g.80452220G>T",
        "CM000677.1:g.80452220G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 78239275,
          "referenceAllele": "G",
          "start": 78239274
        }
      ],
      "hgvs": [
        "NC_000015.8:g.78239275G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11880,
          "referenceAllele": "G",
          "start": 11879
        }
      ],
      "hgvs": [
        "NG_012833.1:g.11880G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002566"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558767.6:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507680.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000682012.1:n.389+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000683593.1:n.191+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000684363.1:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507314.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000684569.1:n.359+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.6:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.2:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.314+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.314+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:n.314+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:n.314+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1801,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000646551.1:n.1801+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000261755.9:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261755.5:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 469,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000407106.5:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385080.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000537726.5:n.396+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2342,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000539156.5:c.104+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454271.1:n.104+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558022.5:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453152.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558767.5:n.575+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 394,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561369.1:n.394+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.5:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.2:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "XM_024449872.1:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305640.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.4:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.314+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.314+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:n.314+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:n.314+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374377.1:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361306.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374380.1:c.314+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361309.1:n.314+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693250"
    }
  ],
  "type": "nucleotide"
}