{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386493146",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1189G>A (p.Glu397Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5909278",
        "active": true,
        "id": "COSM5909278"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103237434C>T?assembly=hg19",
        "id": "chr12:g.103237434C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102843656C>T?assembly=hg38",
        "id": "chr12:g.102843656C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1237673210",
        "rs": 1237673210
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102843656-C-T?dataset=gnomad_r4",
        "id": "12-102843656-C-T",
        "variant": "12:102843656 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102843656,
          "referenceAllele": "C",
          "start": 102843655
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843656C>T",
        "CM000674.2:g.102843656C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103237434,
          "referenceAllele": "C",
          "start": 103237433
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237434C>T",
        "CM000674.1:g.103237434C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101761564,
          "referenceAllele": "C",
          "start": 101761563
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761564C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78947,
          "referenceAllele": "G",
          "start": 78946
        }
      ],
      "hgvs": [
        "NG_008690.1:g.78947G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119755,
          "referenceAllele": "G",
          "start": 119754
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119755G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "referenceAllele": "G",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Glu397Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1189G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1189G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Glu397Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Glu397Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Glu392Lys",
        "hgvsWellDefined": "ENSP00000303500.2:p.Glu392Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.948G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.851G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Glu397Lys",
        "hgvsWellDefined": "ENSP00000448059.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.293G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079879633",
      "coordinates": [
        {
          "allele": "A",
          "end": 1661,
          "referenceAllele": "G",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Glu397Lys",
        "hgvsWellDefined": "NP_000268.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Glu378Lys",
        "hgvsWellDefined": "XP_011536724.1:p.Glu378Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079879633",
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Glu397Lys",
        "hgvsWellDefined": "NP_000268.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Glu397Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079879633",
      "coordinates": [
        {
          "allele": "A",
          "end": 1303,
          "referenceAllele": "G",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Glu397Lys",
        "hgvsWellDefined": "NP_000268.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1189G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1189G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Glu397Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Glu397Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Glu397Lys",
        "hgvsWellDefined": "NP_001341233.1:p.Glu397Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}