{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229408",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.122T>C (p.Leu41Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108309[alleleid]",
        "alleleId": 108309,
        "preferredName": "NM_000277.3(PAH):c.122T>C (p.Leu41Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102573",
        "RCV": [
          "RCV000088809",
          "RCV001093507"
        ],
        "variationId": 102573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103306615A>G?assembly=hg19",
        "id": "chr12:g.103306615A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102912837A>G?assembly=hg38",
        "id": "chr12:g.102912837A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62642916",
        "rs": 62642916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102912837,
          "referenceAllele": "A",
          "start": 102912836
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102912837A>G",
        "CM000674.2:g.102912837A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103306615,
          "referenceAllele": "A",
          "start": 103306614
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103306615A>G",
        "CM000674.1:g.103306615A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101830745,
          "referenceAllele": "A",
          "start": 101830744
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101830745A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9766,
          "referenceAllele": "T",
          "start": 9765
        }
      ],
      "hgvs": [
        "NG_008690.1:g.9766T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50574,
          "referenceAllele": "T",
          "start": 50573
        }
      ],
      "hgvs": [
        "NG_008690.2:g.50574T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "referenceAllele": "T",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Leu41Pro",
        "hgvsWellDefined": "ENSP00000448059.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.122T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.122T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Leu41Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Leu41Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "referenceAllele": "T",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.107T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Leu36Pro",
        "hgvsWellDefined": "ENSP00000303500.2:p.Leu36Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000546844.1:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446658.1:p.Leu41Pro",
        "hgvsWellDefined": "ENSP00000446658.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548677.2:n.209T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "T",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548928.1:n.44T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "referenceAllele": "T",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.106T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "T",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Leu41Pro",
        "hgvsWellDefined": "ENSP00000447620.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.211T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "T",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Leu41Pro",
        "hgvsWellDefined": "ENSP00000448059.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90,
          "referenceAllele": "T",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635500.1:n.90T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106114",
      "coordinates": [
        {
          "allele": "C",
          "end": 594,
          "referenceAllele": "T",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu41Pro",
        "hgvsWellDefined": "NP_000268.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Leu41Pro",
        "hgvsWellDefined": "XP_011536724.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106114",
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "T",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu41Pro",
        "hgvsWellDefined": "NP_000268.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037359",
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "T",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Leu41Pro",
        "hgvsWellDefined": "NP_001341233.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "referenceAllele": "T",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Leu41Pro",
        "hgvsWellDefined": "XP_016874859.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106114",
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "referenceAllele": "T",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Leu41Pro",
        "hgvsWellDefined": "NP_000268.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.122T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.122T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Leu41Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Leu41Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037359",
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "referenceAllele": "T",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Leu41Pro",
        "hgvsWellDefined": "NP_001341233.1:p.Leu41Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}