{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118907",
  "communityStandardTitle": [
    "NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=916259",
        "active": true,
        "id": "COSM916259"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22626[alleleid]",
        "alleleId": 22626,
        "preferredName": "NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7587",
        "RCV": [
          "RCV000008025",
          "RCV003473055"
        ],
        "variationId": 7587
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-13330428-C-T",
        "id": "10-13330428-C-T",
        "variant": "10:13330428 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13330428C>T?assembly=hg19",
        "id": "chr10:g.13330428C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13330428_13330431delinsTGTT?assembly=hg19",
        "id": "chr10:g.13330428_13330431delinsTGTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13288428C>T?assembly=hg38",
        "id": "chr10:g.13288428C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894173",
        "rs": 104894173
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13330428-C-T?dataset=gnomad_r2_1",
        "id": "10-13330428-C-T",
        "variant": "10:13330428 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13288428-C-T?dataset=gnomad_r3",
        "id": "10-13288428-C-T",
        "variant": "10:13288428 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-13288428-C-T?dataset=gnomad_r4",
        "id": "10-13288428-C-T",
        "variant": "10:13288428 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13288428,
          "referenceAllele": "C",
          "start": 13288427
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13288428C>T",
        "CM000672.2:g.13288428C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13330428,
          "referenceAllele": "C",
          "start": 13330427
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13330428C>T",
        "CM000672.1:g.13330428C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13370434,
          "referenceAllele": "C",
          "start": 13370433
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13370434C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16703,
          "referenceAllele": "G",
          "start": 16702
        }
      ],
      "hgvs": [
        "NG_012862.1:g.16703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000263038.9:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263038.4:p.Gly204Ser",
        "hgvsWellDefined": "ENSP00000263038.4:p.Gly204Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263038.9:c.610G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006214.4:c.610G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263038.4:p.Gly204Ser"
          },
          "RefSeq": {
            "hgvs": "NP_006205.1:p.Gly204Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000263038.8:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263038.4:p.Gly204Ser",
        "hgvsWellDefined": "ENSP00000263038.4:p.Gly204Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000396913.6:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380121.2:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000380121.2:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000396920.7:c.559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380126.3:p.Gly187Ser",
        "hgvsWellDefined": "ENSP00000380126.3:p.Gly187Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000453759.6:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412525.2:p.Gly104Ser",
        "hgvsWellDefined": "ENSP00000412525.2:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000479604.1:c.616G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420117.1:p.Gly206Ser",
        "hgvsWellDefined": "ENSP00000420117.1:p.Gly206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380791",
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001037537.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032626.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001032626.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108303",
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_006214.3:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006205.1:p.Gly204Ser",
        "hgvsWellDefined": "NP_006205.1:p.Gly204Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "-",
          "endIntronOffset": 4588,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "-",
          "startIntronOffset": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "XM_005252469.2:c.460-4589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252526.1:n.460-4589G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827185450",
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323080.1:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310009.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001310009.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026793",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323082.1:c.616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Gly206Ser",
        "hgvsWellDefined": "NP_001310011.1:p.Gly206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 4588,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.1:c.415-4589G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4589G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827186006",
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.1:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Gly106Ser",
        "hgvsWellDefined": "NP_001310013.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108303",
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_006214.4:c.610G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006205.1:p.Gly204Ser",
        "hgvsWellDefined": "NP_006205.1:p.Gly204Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263038.9:c.610G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006214.4:c.610G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263038.4:p.Gly204Ser"
          },
          "RefSeq": {
            "hgvs": "NP_006205.1:p.Gly204Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380791",
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001037537.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032626.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001032626.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827185450",
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323080.2:c.310G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310009.1:p.Gly104Ser",
        "hgvsWellDefined": "NP_001310009.1:p.Gly104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026793",
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323082.2:c.616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Gly206Ser",
        "hgvsWellDefined": "NP_001310011.1:p.Gly206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 4588,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.2:c.415-4589G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4589G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827186006",
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.2:c.316G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Gly106Ser",
        "hgvsWellDefined": "NP_001310013.1:p.Gly106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718301"
    }
  ],
  "type": "nucleotide"
}