{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386299588",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.477G>C (p.Lys159Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103260406C>G?assembly=hg19",
        "id": "chr12:g.103260406C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102866628C>G?assembly=hg38",
        "id": "chr12:g.102866628C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2499636933",
        "rs": 2499636933
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102866628-C-G?dataset=gnomad_r4",
        "id": "12-102866628-C-G",
        "variant": "12:102866628 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102866628,
          "referenceAllele": "C",
          "start": 102866627
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102866628C>G",
        "CM000674.2:g.102866628C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103260406,
          "referenceAllele": "C",
          "start": 103260405
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103260406C>G",
        "CM000674.1:g.103260406C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101784536,
          "referenceAllele": "C",
          "start": 101784535
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101784536C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 55975,
          "referenceAllele": "G",
          "start": 55974
        }
      ],
      "hgvs": [
        "NG_008690.1:g.55975G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96783,
          "referenceAllele": "G",
          "start": 96782
        }
      ],
      "hgvs": [
        "NG_008690.2:g.96783G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys159Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.477G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.477G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys159Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys159Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.462G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Lys154Asn",
        "hgvsWellDefined": "ENSP00000303500.2:p.Lys154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.573G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 10834,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 10833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.530+10834G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Lys159Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080412424",
      "coordinates": [
        {
          "allele": "C",
          "end": 949,
          "referenceAllele": "G",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys159Asn",
        "hgvsWellDefined": "NP_000268.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Lys159Asn",
        "hgvsWellDefined": "XP_011536724.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080412424",
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys159Asn",
        "hgvsWellDefined": "NP_000268.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys159Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Lys159Asn",
        "hgvsWellDefined": "XP_016874859.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080412424",
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Lys159Asn",
        "hgvsWellDefined": "NP_000268.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.477G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.477G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Lys159Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Lys159Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.477G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Lys159Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Lys159Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}