{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386291713",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.928T>A (p.Ser310Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103240714A>T?assembly=hg19",
        "id": "chr12:g.103240714A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102846936A>T?assembly=hg38",
        "id": "chr12:g.102846936A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102846936,
          "referenceAllele": "A",
          "start": 102846935
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102846936A>T",
        "CM000674.2:g.102846936A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103240714,
          "referenceAllele": "A",
          "start": 103240713
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103240714A>T",
        "CM000674.1:g.103240714A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101764844,
          "referenceAllele": "A",
          "start": 101764843
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101764844A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75667,
          "referenceAllele": "T",
          "start": 75666
        }
      ],
      "hgvs": [
        "NG_008690.1:g.75667T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116475,
          "referenceAllele": "T",
          "start": 116474
        }
      ],
      "hgvs": [
        "NG_008690.2:g.116475T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser310Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.928T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.928T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser310Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser310Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.913T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Ser305Thr",
        "hgvsWellDefined": "ENSP00000303500.2:p.Ser305Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.687T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.590T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Ser310Thr",
        "hgvsWellDefined": "ENSP00000448059.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73,
          "endIntronDirection": "-",
          "endIntronOffset": 2504,
          "referenceAllele": "T",
          "start": 73,
          "startIntronDirection": "-",
          "startIntronOffset": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.74-2505T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "T",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.443T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser310Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "endIntronDirection": "-",
          "endIntronOffset": 2504,
          "referenceAllele": "T",
          "start": 1027,
          "startIntronDirection": "-",
          "startIntronOffset": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.913-2505T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.913-2505T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser310Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "T",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser310Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Ser310Thr",
        "hgvsWellDefined": "NP_000268.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.928T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.928T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Ser310Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Ser310Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "T",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Ser310Thr",
        "hgvsWellDefined": "NP_001341233.1:p.Ser310Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}