{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16020948",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=860994[alleleid]",
        "alleleId": 860994,
        "preferredName": "NM_000277.3(PAH):c.1146C>G (p.Phe382Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/872835",
        "RCV": [
          "RCV001093510"
        ],
        "variationId": 872835
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237477G>C?assembly=hg19",
        "id": "chr12:g.103237477G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843699G>C?assembly=hg38",
        "id": "chr12:g.102843699G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1874691554",
        "rs": 1874691554
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102843699,
          "referenceAllele": "G",
          "start": 102843698
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843699G>C",
        "CM000674.2:g.102843699G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103237477,
          "referenceAllele": "G",
          "start": 103237476
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237477G>C",
        "CM000674.1:g.103237477G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101761607,
          "referenceAllele": "G",
          "start": 101761606
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761607G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78904,
          "referenceAllele": "C",
          "start": 78903
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78904C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119712,
          "referenceAllele": "C",
          "start": 119711
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119712C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Phe382Leu",
        "hgvsWellDefined": "ENSP00000448059.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1146C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1146C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Phe382Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Phe382Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Phe377Leu",
        "hgvsWellDefined": "ENSP00000303500.2:p.Phe377Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.905C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.808C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Phe382Leu",
        "hgvsWellDefined": "ENSP00000448059.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.250C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.661C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825336",
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Phe382Leu",
        "hgvsWellDefined": "NP_000268.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1089C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Phe363Leu",
        "hgvsWellDefined": "XP_011536724.1:p.Phe363Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825336",
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Phe382Leu",
        "hgvsWellDefined": "NP_000268.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037799",
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Phe382Leu",
        "hgvsWellDefined": "NP_001341233.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825336",
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Phe382Leu",
        "hgvsWellDefined": "NP_000268.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1146C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1146C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Phe382Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Phe382Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037799",
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "C",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1146C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Phe382Leu",
        "hgvsWellDefined": "NP_001341233.1:p.Phe382Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}