{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376035137",
  "communityStandardTitle": [
    "NM_006214.4(PHYH):c.674G>A (p.Trp225Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13330364C>T?assembly=hg19",
        "id": "chr10:g.13330364C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.13288364C>T?assembly=hg38",
        "id": "chr10:g.13288364C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1835606985",
        "rs": 1835606985
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13288364,
          "referenceAllele": "C",
          "start": 13288363
        }
      ],
      "hgvs": [
        "NC_000010.11:g.13288364C>T",
        "CM000672.2:g.13288364C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13330364,
          "referenceAllele": "C",
          "start": 13330363
        }
      ],
      "hgvs": [
        "NC_000010.10:g.13330364C>T",
        "CM000672.1:g.13330364C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 13370370,
          "referenceAllele": "C",
          "start": 13370369
        }
      ],
      "hgvs": [
        "NC_000010.9:g.13370370C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16767,
          "referenceAllele": "G",
          "start": 16766
        }
      ],
      "hgvs": [
        "NG_012862.1:g.16767G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000263038.9:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263038.4:p.Trp225Ter",
        "hgvsWellDefined": "ENSP00000263038.4:p.Trp225_Leu338delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263038.9:c.674G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006214.4:c.674G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263038.4:p.Trp225Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006205.1:p.Trp225Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000263038.8:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263038.4:p.Trp225Ter",
        "hgvsWellDefined": "ENSP00000263038.4:p.Trp225_Leu338delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000396913.6:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380121.2:p.Trp125Ter",
        "hgvsWellDefined": "ENSP00000380121.2:p.Trp125_Leu238delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000396920.7:c.623G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380126.3:p.Trp208Ter",
        "hgvsWellDefined": "ENSP00000380126.3:p.Trp208_Leu321delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "ENST00000453759.6:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412525.2:p.Trp125Ter",
        "hgvsWellDefined": "ENSP00000412525.2:p.Trp125_Lys176del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380810",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001037537.1:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032626.1:p.Trp125Ter",
        "hgvsWellDefined": "NP_001032626.1:p.Trp125_Leu238delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829641163",
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_006214.3:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006205.1:p.Trp225Ter",
        "hgvsWellDefined": "NP_006205.1:p.Trp225_Leu338delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "-",
          "endIntronOffset": 4524,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "-",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "XM_005252469.2:c.460-4525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252526.1:n.460-4525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827185469",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323080.1:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310009.1:p.Trp125Ter",
        "hgvsWellDefined": "NP_001310009.1:p.Trp125_Leu238delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580214757",
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323082.1:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001310011.1:p.Trp227_Leu340delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 4524,
          "referenceAllele": "G",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.1:c.415-4525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827186026",
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.1:c.380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Trp127Ter",
        "hgvsWellDefined": "NP_001310013.1:p.Trp127_Leu240delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829641163",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_006214.4:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006205.1:p.Trp225Ter",
        "hgvsWellDefined": "NP_006205.1:p.Trp225_Leu338delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263038.9:c.674G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006214.4:c.674G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263038.4:p.Trp225Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006205.1:p.Trp225Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380810",
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001037537.2:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032626.1:p.Trp125Ter",
        "hgvsWellDefined": "NP_001032626.1:p.Trp125_Leu238delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827185469",
      "coordinates": [
        {
          "allele": "A",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323080.2:c.374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310009.1:p.Trp125Ter",
        "hgvsWellDefined": "NP_001310009.1:p.Trp125_Leu238delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580214757",
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323082.2:c.680G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Trp227Ter",
        "hgvsWellDefined": "NP_001310011.1:p.Trp227_Leu340delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 4524,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.2:c.415-4525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827186026",
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.2:c.380G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Trp127Ter",
        "hgvsWellDefined": "NP_001310013.1:p.Trp127_Leu240delinsGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718301"
    }
  ],
  "type": "nucleotide"
}