{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229887",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.977G>A (p.Trp326Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15618[alleleid]",
        "alleleId": 15618,
        "preferredName": "NM_000277.3(PAH):c.977G>A (p.Trp326Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/579",
        "RCV": [
          "RCV000000609",
          "RCV000089188"
        ],
        "variationId": 579
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103238202C>T?assembly=hg19",
        "id": "chr12:g.103238202C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102844424C>T?assembly=hg38",
        "id": "chr12:g.102844424C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62514959",
        "rs": 62514959
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-103238202-C-T?dataset=gnomad_r2_1",
        "id": "12-103238202-C-T",
        "variant": "12:103238202 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102844424-C-T?dataset=gnomad_r4",
        "id": "12-102844424-C-T",
        "variant": "12:102844424 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102844424,
          "referenceAllele": "C",
          "start": 102844423
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102844424C>T",
        "CM000674.2:g.102844424C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103238202,
          "referenceAllele": "C",
          "start": 103238201
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103238202C>T",
        "CM000674.1:g.103238202C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101762332,
          "referenceAllele": "C",
          "start": 101762331
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101762332C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78179,
          "referenceAllele": "G",
          "start": 78178
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78179G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118987,
          "referenceAllele": "G",
          "start": 118986
        }
      ],
      "hgvs": [
        "NG_008690.2:g.118987G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Trp326Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.977G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.977G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Trp326Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Trp326Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.962G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Trp321Ter",
        "hgvsWellDefined": "ENSP00000303500.2:p.Trp321_Lys447delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.736G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.639G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Trp326Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.81G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.492G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229888",
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp326Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.920G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Trp307Ter",
        "hgvsWellDefined": "XP_011536724.1:p.Trp307_Lys433delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229888",
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "referenceAllele": "G",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp326Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037729",
      "coordinates": [
        {
          "allele": "A",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Trp326Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229888",
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp326Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.977G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.977G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Trp326Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Trp326Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037729",
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Trp326Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Trp326_Lys452delinsPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}