{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414700198",
  "communityStandardTitle": [
    "NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951606[alleleid]",
        "alleleId": 951606,
        "preferredName": "NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959164",
        "RCV": [
          "RCV001232458",
          "RCV003992471"
        ],
        "variationId": 959164
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132834044A>G?assembly=hg19",
        "id": "chrX:g.132834044A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.133700016A>G?assembly=hg38",
        "id": "chrX:g.133700016A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2071153160",
        "rs": 2071153160
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-133700016-A-G?dataset=gnomad_r4",
        "id": "X-133700016-A-G",
        "variant": "X:133700016 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 133700016,
          "referenceAllele": "A",
          "start": 133700015
        }
      ],
      "hgvs": [
        "NC_000023.11:g.133700016A>G",
        "CM000685.2:g.133700016A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 132834044,
          "referenceAllele": "A",
          "start": 132834043
        }
      ],
      "hgvs": [
        "NC_000023.10:g.132834044A>G",
        "CM000685.1:g.132834044A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 132661710,
          "referenceAllele": "A",
          "start": 132661709
        }
      ],
      "hgvs": [
        "NC_000023.9:g.132661710A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290623,
          "referenceAllele": "T",
          "start": 290622
        }
      ],
      "hgvs": [
        "NG_009286.1:g.290623T>C",
        "LRG_505:g.290623T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "T",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.3:c.234T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76,
          "referenceAllele": "T",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.2:n.76T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000684880.1:c.*633T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510280.1:n.*633T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "T",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000689310.1:c.997T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510438.1:p.Cys333Arg",
        "hgvsWellDefined": "ENSP00000510438.1:p.Cys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "T",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692084.1:c.332T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "T",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.8:c.1045T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Cys349Arg",
        "hgvsWellDefined": "ENSP00000359854.3:p.Cys349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1045T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1045T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Cys349Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Cys349Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.7:c.1114T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Cys372Arg",
        "hgvsWellDefined": "ENSP00000377836.2:p.Cys372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "T",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.1:n.332T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "referenceAllele": "T",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000667662.1:n.112T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "T",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000669691.1:n.91T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1491,
          "referenceAllele": "T",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.7:c.1045T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Cys349Arg",
        "hgvsWellDefined": "ENSP00000359854.3:p.Cys349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.6:c.1114T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Cys372Arg",
        "hgvsWellDefined": "ENSP00000377836.2:p.Cys372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "referenceAllele": "T",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.2:c.234T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000631057.2:c.883T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486325.1:p.Cys295Arg",
        "hgvsWellDefined": "ENSP00000486325.1:p.Cys295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691115",
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.1:c.1114T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Cys372Arg",
        "hgvsWellDefined": "NP_001158089.1:p.Cys372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996673",
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.1:c.997T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Cys333Arg",
        "hgvsWellDefined": "NP_001158090.1:p.Cys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997288",
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "T",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.883T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Cys295Arg",
        "hgvsWellDefined": "NP_001158091.1:p.Cys295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "T",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.1045T>C",
        "LRG_505t1:c.1045T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Cys349Arg",
        "hgvsWellDefined": "NP_004475.1:p.Cys349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "T",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "XM_017029413.2:c.1045T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884902.1:p.Cys349Arg",
        "hgvsWellDefined": "XP_016884902.1:p.Cys349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691115",
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.1114T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Cys372Arg",
        "hgvsWellDefined": "NP_001158089.1:p.Cys372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996673",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.997T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Cys333Arg",
        "hgvsWellDefined": "NP_001158090.1:p.Cys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997288",
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.883T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Cys295Arg",
        "hgvsWellDefined": "NP_001158091.1:p.Cys295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829524047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "T",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.1045T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Cys349Arg",
        "hgvsWellDefined": "NP_004475.1:p.Cys349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1045T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1045T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Cys349Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Cys349Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}