{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2416906310",
  "communityStandardTitle": [
    "NM_002641.4(PIGA):c.294C= (p.Tyr98=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422232",
        "rs": 199422232
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 15331637,
          "referenceAllele": "G",
          "start": 15331636
        }
      ],
      "hgvs": [
        "NC_000023.11:g.15331637G=",
        "CM000685.2:g.15331637G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 15349759,
          "referenceAllele": "G",
          "start": 15349758
        }
      ],
      "hgvs": [
        "NC_000023.10:g.15349759G=",
        "CM000685.1:g.15349759G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 15259680,
          "referenceAllele": "G",
          "start": 15259679
        }
      ],
      "hgvs": [
        "NC_000023.9:g.15259680G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8902,
          "referenceAllele": "C",
          "start": 8901
        }
      ],
      "hgvs": [
        "NG_009786.1:g.8902C=",
        "LRG_160:g.8902C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001641"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.6:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.294C="
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.294C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Tyr98="
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Tyr98="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 237,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637296.1:c.-315+237C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490545.1:n.-315+237C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637626.1:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489928.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 183,
          "referenceAllele": "C",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000638131.1:c.111+183C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490483.1:n.111+183C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.5:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 237,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000474662.2:n.142+237C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000482148.6:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489528.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000542278.6:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442653.2:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634286.1:c.87C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489491.1:p.Tyr29="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 3864,
          "referenceAllele": "C",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634582.1:c.13+3864C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489540.1:n.13+3864C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 237,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634640.1:c.-231+237C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489083.1:n.-231+237C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635045.1:n.379C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635543.1:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489205.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635598.1:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489207.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063216200",
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.3:c.294C=",
        "LRG_160t1:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 3864,
          "referenceAllele": "C",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_020473.3:c.13+3864C="
      ],
      "proteinEffect": {
        "hgvs": "NP_065206.3:n.13+3864C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033835.1:n.410C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 237,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033836.1:n.173+237C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063216200",
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.4:c.294C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Tyr98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.294C="
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.294C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Tyr98="
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Tyr98="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}