{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386296646",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.644A>T (p.Lys215Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1358233",
        "active": true,
        "id": "COSM1358233"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103248976T>A?assembly=hg19",
        "id": "chr12:g.103248976T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102855198T>A?assembly=hg38",
        "id": "chr12:g.102855198T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102855198,
          "referenceAllele": "T",
          "start": 102855197
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855198T>A",
        "CM000674.2:g.102855198T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103248976,
          "referenceAllele": "T",
          "start": 103248975
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248976T>A",
        "CM000674.1:g.103248976T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101773106,
          "referenceAllele": "T",
          "start": 101773105
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773106T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67405,
          "referenceAllele": "A",
          "start": 67404
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67405A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108213,
          "referenceAllele": "A",
          "start": 108212
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108213A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys215Met",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.644A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.644A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys215Met"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys215Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "A",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.629A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Lys210Met",
        "hgvsWellDefined": "ENSP00000303500.2:p.Lys210Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "A",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.740A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys215Met",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys215Met",
        "hgvsWellDefined": "NP_000268.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Lys215Met",
        "hgvsWellDefined": "XP_011536724.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "A",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys215Met",
        "hgvsWellDefined": "NP_000268.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys215Met",
        "hgvsWellDefined": "NP_001341233.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Lys215Met",
        "hgvsWellDefined": "XP_016874859.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys215Met",
        "hgvsWellDefined": "NP_000268.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.644A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.644A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys215Met"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys215Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.644A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys215Met",
        "hgvsWellDefined": "NP_001341233.1:p.Lys215Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}