{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414704252",
  "communityStandardTitle": [
    "NM_004484.4(GPC3):c.1413+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691270[alleleid]",
        "alleleId": 1691270,
        "preferredName": "NM_004484.4(GPC3):c.1413+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698894",
        "RCV": [
          "RCV002272751"
        ],
        "variationId": 1698894
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132795757C>G?assembly=hg19",
        "id": "chrX:g.132795757C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.133661729C>G?assembly=hg38",
        "id": "chrX:g.133661729C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2124401754",
        "rs": 2124401754
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 133661729,
          "referenceAllele": "C",
          "start": 133661728
        }
      ],
      "hgvs": [
        "NC_000023.11:g.133661729C>G",
        "CM000685.2:g.133661729C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 132795757,
          "referenceAllele": "C",
          "start": 132795756
        }
      ],
      "hgvs": [
        "NC_000023.10:g.132795757C>G",
        "CM000685.1:g.132795757C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 132623423,
          "referenceAllele": "C",
          "start": 132623422
        }
      ],
      "hgvs": [
        "NC_000023.9:g.132623423C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328910,
          "referenceAllele": "G",
          "start": 328909
        }
      ],
      "hgvs": [
        "NG_009286.1:g.328910G>C",
        "LRG_505:g.328910G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.3:c.602+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.2:n.444+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1533,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000689310.1:c.1365+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510438.1:n.1365+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692074.1:n.357+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692084.1:c.700+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1558,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1558,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.8:c.1413+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:n.1413+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1413+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1413+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:n.1413+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:n.1413+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.7:c.1482+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:n.1482+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666017.1:n.291+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 700,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.1:n.700+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 480,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000667662.1:n.480+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000669691.1:n.479+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1859,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1859,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.7:c.1413+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:n.1413+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.6:c.1482+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:n.1482+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.2:c.602+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000631057.2:c.1251+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486325.1:n.1251+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1679,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.1:c.1482+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:n.1482+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.1:c.1365+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:n.1365+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1448,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.1251+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:n.1251+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1610,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.1413+1G>C",
        "LRG_505t1:c.1413+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:n.1413+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.1482+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:n.1482+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.1365+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:n.1365+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1396,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.1251+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:n.1251+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1558,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1558,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.1413+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:n.1413+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1413+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1413+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:n.1413+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:n.1413+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}