{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16020747",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.209C>T (p.Ser70Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975740[alleleid]",
        "alleleId": 975740,
        "preferredName": "NM_000277.3(PAH):c.209C>T (p.Ser70Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987767",
        "RCV": [
          "RCV001269066"
        ],
        "variationId": 987767
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103288656G>A?assembly=hg19",
        "id": "chr12:g.103288656G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102894878G>A?assembly=hg38",
        "id": "chr12:g.102894878G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1877434368",
        "rs": 1877434368
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102894878,
          "referenceAllele": "G",
          "start": 102894877
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102894878G>A",
        "CM000674.2:g.102894878G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103288656,
          "referenceAllele": "G",
          "start": 103288655
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103288656G>A",
        "CM000674.1:g.103288656G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101812786,
          "referenceAllele": "G",
          "start": 101812785
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101812786G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27725,
          "referenceAllele": "C",
          "start": 27724
        }
      ],
      "hgvs": [
        "NG_008690.1:g.27725C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68533,
          "referenceAllele": "C",
          "start": 68532
        }
      ],
      "hgvs": [
        "NG_008690.2:g.68533C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser70Phe",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.209C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.209C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser70Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser70Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ser65Phe",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ser65Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000546844.1:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446658.1:p.Ser70Phe",
        "hgvsWellDefined": "ENSP00000446658.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548677.2:n.296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548928.1:n.131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.305C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.193C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Ser70Phe",
        "hgvsWellDefined": "ENSP00000447620.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.298C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser70Phe",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635500.1:n.177C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137888",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser70Phe",
        "hgvsWellDefined": "NP_000268.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ser70Phe",
        "hgvsWellDefined": "XP_011536724.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137888",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser70Phe",
        "hgvsWellDefined": "NP_000268.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139741955",
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser70Phe",
        "hgvsWellDefined": "NP_001341233.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Ser70Phe",
        "hgvsWellDefined": "XP_016874859.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137888",
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser70Phe",
        "hgvsWellDefined": "NP_000268.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.209C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.209C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser70Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser70Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139741955",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser70Phe",
        "hgvsWellDefined": "NP_001341233.1:p.Ser70Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}