{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386493138",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1192A>C (p.Lys398Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237431T>G?assembly=hg19",
        "id": "chr12:g.103237431T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843653T>G?assembly=hg38",
        "id": "chr12:g.102843653T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102843653,
          "referenceAllele": "T",
          "start": 102843652
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843653T>G",
        "CM000674.2:g.102843653T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103237431,
          "referenceAllele": "T",
          "start": 103237430
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237431T>G",
        "CM000674.1:g.103237431T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101761561,
          "referenceAllele": "T",
          "start": 101761560
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761561T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78950,
          "referenceAllele": "A",
          "start": 78949
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78950A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119758,
          "referenceAllele": "A",
          "start": 119757
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119758A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "A",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys398Gln",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1192A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1192A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys398Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys398Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "referenceAllele": "A",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1177A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Lys393Gln",
        "hgvsWellDefined": "ENSP00000303500.2:p.Lys393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.951A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.854A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys398Gln",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.296A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.707A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys398Gln",
        "hgvsWellDefined": "NP_000268.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1135A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Lys379Gln",
        "hgvsWellDefined": "XP_011536724.1:p.Lys379Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys398Gln",
        "hgvsWellDefined": "NP_000268.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1503,
          "referenceAllele": "A",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys398Gln",
        "hgvsWellDefined": "NP_001341233.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "A",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys398Gln",
        "hgvsWellDefined": "NP_000268.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1192A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1192A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys398Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys398Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "A",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1192A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys398Gln",
        "hgvsWellDefined": "NP_001341233.1:p.Lys398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}