{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10354146",
  "communityStandardTitle": [
    "NM_002641.4(PIGA):c.616A>G (p.Ile206Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411149[alleleid]",
        "alleleId": 411149,
        "preferredName": "NM_002641.4(PIGA):c.616A>G (p.Ile206Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424453",
        "RCV": [
          "RCV000484035",
          "RCV002525974",
          "RCV002318585"
        ],
        "variationId": 424453
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-15349437-T-C",
        "id": "X-15349437-T-C",
        "variant": "X:15349437 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.15349437T>C?assembly=hg19",
        "id": "chrX:g.15349437T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.15331315T>C?assembly=hg38",
        "id": "chrX:g.15331315T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201119959",
        "rs": 201119959
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-15349437-T-C?dataset=gnomad_r2_1",
        "id": "X-15349437-T-C",
        "variant": "X:15349437 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-15331315-T-C?dataset=gnomad_r3",
        "id": "X-15331315-T-C",
        "variant": "X:15331315 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-15331315-T-C?dataset=gnomad_r4",
        "id": "X-15331315-T-C",
        "variant": "X:15331315 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 15331315,
          "referenceAllele": "T",
          "start": 15331314
        }
      ],
      "hgvs": [
        "NC_000023.11:g.15331315T>C",
        "CM000685.2:g.15331315T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 15349437,
          "referenceAllele": "T",
          "start": 15349436
        }
      ],
      "hgvs": [
        "NC_000023.10:g.15349437T>C",
        "CM000685.1:g.15349437T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 15259358,
          "referenceAllele": "T",
          "start": 15259357
        }
      ],
      "hgvs": [
        "NC_000023.9:g.15259358T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9224,
          "referenceAllele": "A",
          "start": 9223
        }
      ],
      "hgvs": [
        "NG_009786.1:g.9224A>G",
        "LRG_160:g.9224A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001641"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.6:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Ile206Val",
        "hgvsWellDefined": "ENSP00000369820.3:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.616A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.616A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Ile206Val"
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Ile206Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637296.1:c.-314-16A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490545.1:n.-314-16A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000637626.1:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489928.1:p.Ile206Val",
        "hgvsWellDefined": "ENSP00000489928.1:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "endIntronDirection": "+",
          "endIntronOffset": 505,
          "referenceAllele": "A",
          "start": 217,
          "startIntronDirection": "+",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000638131.1:c.111+505A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490483.1:n.111+505A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000333590.5:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369820.3:p.Ile206Val",
        "hgvsWellDefined": "ENSP00000369820.3:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000474662.2:n.142+559A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "endIntronDirection": "+",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 406,
          "startIntronDirection": "+",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000482148.6:c.341+275A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489528.1:n.341+275A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 736,
          "referenceAllele": "A",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000542278.6:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442653.2:p.Ile206Val",
        "hgvsWellDefined": "ENSP00000442653.2:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "endIntronDirection": "+",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 134,
          "startIntronDirection": "+",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634286.1:c.134+275A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489491.1:n.134+275A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 4186,
          "referenceAllele": "A",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634582.1:c.13+4186A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489540.1:n.13+4186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000634640.1:c.-231+559A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489083.1:n.-231+559A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635045.1:n.701A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "ENST00000635598.1:c.341+275A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489207.1:n.341+275A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430550",
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.3:c.616A>G",
        "LRG_160t1:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Ile206Val",
        "hgvsWellDefined": "NP_002632.1:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 4186,
          "referenceAllele": "A",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_020473.3:c.13+4186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065206.3:n.13+4186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033835.1:n.457+275A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NR_033836.1:n.173+559A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645430550",
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "referenceAllele": "A",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008957",
      "geneNCBI_id": 5277,
      "geneSymbol": "PIGA",
      "hgvs": [
        "NM_002641.4:c.616A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002632.1:p.Ile206Val",
        "hgvsWellDefined": "NP_002632.1:p.Ile206Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333590.6:c.616A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002641.4:c.616A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369820.3:p.Ile206Val"
          },
          "RefSeq": {
            "hgvs": "NP_002632.1:p.Ile206Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}