{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414704759",
  "communityStandardTitle": [
    "NM_004484.4(GPC3):c.1318G>A (p.Gly440Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535021[alleleid]",
        "alleleId": 535021,
        "preferredName": "NM_004484.4(GPC3):c.1318G>A (p.Gly440Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/543093",
        "RCV": [
          "RCV000653754"
        ],
        "variationId": 543093
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.132795853C>T?assembly=hg19",
        "id": "chrX:g.132795853C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.133661825C>T?assembly=hg38",
        "id": "chrX:g.133661825C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1203009272",
        "rs": 1203009272
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-132795853-C-T?dataset=gnomad_r2_1",
        "id": "X-132795853-C-T",
        "variant": "X:132795853 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-133661825-C-T?dataset=gnomad_r4",
        "id": "X-133661825-C-T",
        "variant": "X:133661825 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 133661825,
          "referenceAllele": "C",
          "start": 133661824
        }
      ],
      "hgvs": [
        "NC_000023.11:g.133661825C>T",
        "CM000685.2:g.133661825C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 132795853,
          "referenceAllele": "C",
          "start": 132795852
        }
      ],
      "hgvs": [
        "NC_000023.10:g.132795853C>T",
        "CM000685.1:g.132795853C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 132623519,
          "referenceAllele": "C",
          "start": 132623518
        }
      ],
      "hgvs": [
        "NC_000023.9:g.132623519C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328814,
          "referenceAllele": "G",
          "start": 328813
        }
      ],
      "hgvs": [
        "NG_009286.1:g.328814G>A",
        "LRG_505:g.328814G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.3:c.507G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.2:n.349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000689310.1:c.1270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510438.1:p.Gly424Arg",
        "hgvsWellDefined": "ENSP00000510438.1:p.Gly424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692074.1:n.262G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000692084.1:c.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.8:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Gly440Arg",
        "hgvsWellDefined": "ENSP00000359854.3:p.Gly440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1318G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1318G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Gly440Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Gly440Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.7:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Gly463Arg",
        "hgvsWellDefined": "ENSP00000377836.2:p.Gly463Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666017.1:n.196G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000666673.1:n.605G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000667662.1:n.385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000669691.1:n.384G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000370818.7:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359854.3:p.Gly440Arg",
        "hgvsWellDefined": "ENSP00000359854.3:p.Gly440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000394299.6:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377836.2:p.Gly463Arg",
        "hgvsWellDefined": "ENSP00000377836.2:p.Gly463Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000406757.2:c.507G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "ENST00000631057.2:c.1156G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486325.1:p.Gly386Arg",
        "hgvsWellDefined": "ENSP00000486325.1:p.Gly386Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988533",
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.1:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Gly463Arg",
        "hgvsWellDefined": "NP_001158089.1:p.Gly463Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996788",
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "referenceAllele": "G",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.1:c.1270G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Gly424Arg",
        "hgvsWellDefined": "NP_001158090.1:p.Gly424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997403",
      "coordinates": [
        {
          "allele": "A",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.1:c.1156G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Gly386Arg",
        "hgvsWellDefined": "NP_001158091.1:p.Gly386Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819042",
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.3:c.1318G>A",
        "LRG_505t1:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Gly440Arg",
        "hgvsWellDefined": "NP_004475.1:p.Gly440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988533",
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164617.2:c.1387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158089.1:p.Gly463Arg",
        "hgvsWellDefined": "NP_001158089.1:p.Gly463Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825996788",
      "coordinates": [
        {
          "allele": "A",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164618.2:c.1270G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158090.1:p.Gly424Arg",
        "hgvsWellDefined": "NP_001158090.1:p.Gly424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825997403",
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_001164619.2:c.1156G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158091.1:p.Gly386Arg",
        "hgvsWellDefined": "NP_001158091.1:p.Gly386Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819042",
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004451",
      "geneNCBI_id": 2719,
      "geneSymbol": "GPC3",
      "hgvs": [
        "NM_004484.4:c.1318G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004475.1:p.Gly440Arg",
        "hgvsWellDefined": "NP_004475.1:p.Gly440Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696153",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370818.8:c.1318G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004484.4:c.1318G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359854.3:p.Gly440Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004475.1:p.Gly440Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}