{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229821",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.848T>A (p.Ile283Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108613[alleleid]",
        "alleleId": 108613,
        "preferredName": "NM_000277.3(PAH):c.848T>A (p.Ile283Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102877",
        "RCV": [
          "RCV000089138",
          "RCV000758133"
        ],
        "variationId": 102877
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103245529A>T?assembly=hg19",
        "id": "chr12:g.103245529A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102851751A>T?assembly=hg38",
        "id": "chr12:g.102851751A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62508693",
        "rs": 62508693
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102851751-A-T?dataset=gnomad_r3",
        "id": "12-102851751-A-T",
        "variant": "12:102851751 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102851751-A-T?dataset=gnomad_r4",
        "id": "12-102851751-A-T",
        "variant": "12:102851751 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102851751,
          "referenceAllele": "A",
          "start": 102851750
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102851751A>T",
        "CM000674.2:g.102851751A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103245529,
          "referenceAllele": "A",
          "start": 103245528
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103245529A>T",
        "CM000674.1:g.103245529A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101769659,
          "referenceAllele": "A",
          "start": 101769658
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101769659A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70852,
          "referenceAllele": "T",
          "start": 70851
        }
      ],
      "hgvs": [
        "NG_008690.1:g.70852T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111660,
          "referenceAllele": "T",
          "start": 111659
        }
      ],
      "hgvs": [
        "NG_008690.2:g.111660T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "T",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile283Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.848T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.848T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile283Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile283Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "T",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.833T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ile278Asn",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ile278Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.607T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.510T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1321,
          "referenceAllele": "T",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ile283Asn",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9,
          "referenceAllele": "T",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.9T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105894",
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile283Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "T",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Ile283Asn",
        "hgvsWellDefined": "XP_011536724.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105894",
      "coordinates": [
        {
          "allele": "A",
          "end": 1321,
          "referenceAllele": "T",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile283Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037670",
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "T",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile283Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105894",
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "T",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ile283Asn",
        "hgvsWellDefined": "NP_000268.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.848T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.848T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ile283Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ile283Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037670",
      "coordinates": [
        {
          "allele": "A",
          "end": 1190,
          "referenceAllele": "T",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.848T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ile283Asn",
        "hgvsWellDefined": "NP_001341233.1:p.Ile283Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}