{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2904533",
  "communityStandardTitle": [
    "NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1055544",
        "active": true,
        "id": "COSM1055544"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229177[alleleid]",
        "alleleId": 229177,
        "preferredName": "NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228734",
        "RCV": [
          "RCV000221799",
          "RCV000285502",
          "RCV000915806",
          "RCV003907825"
        ],
        "variationId": 228734
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-43032469-G-A",
        "id": "4-43032469-G-A",
        "variant": "4:43032469 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.43032469G>A?assembly=hg19",
        "id": "chr4:g.43032469G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.43030452G>A?assembly=hg38",
        "id": "chr4:g.43030452G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146696590",
        "rs": 146696590
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-43032469-G-A?dataset=gnomad_r2_1",
        "id": "4-43032469-G-A",
        "variant": "4:43032469 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-43030452-G-A?dataset=gnomad_r3",
        "id": "4-43030452-G-A",
        "variant": "4:43030452 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-43030452-G-A?dataset=gnomad_r4",
        "id": "4-43030452-G-A",
        "variant": "4:43030452 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 43030452,
          "referenceAllele": "G",
          "start": 43030451
        }
      ],
      "hgvs": [
        "NC_000004.12:g.43030452G>A",
        "CM000666.2:g.43030452G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 43032469,
          "referenceAllele": "G",
          "start": 43032468
        }
      ],
      "hgvs": [
        "NC_000004.11:g.43032469G>A",
        "CM000666.1:g.43032469G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 42727226,
          "referenceAllele": "G",
          "start": 42727225
        }
      ],
      "hgvs": [
        "NC_000004.10:g.42727226G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142187,
          "referenceAllele": "G",
          "start": 142186
        }
      ],
      "hgvs": [
        "NG_027718.1:g.142187G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.3:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Arg262Gln",
        "hgvsWellDefined": "ENSP00000382670.2:p.Arg262Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.785G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.785G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Arg262Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Arg262Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.2:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Arg262Gln",
        "hgvsWellDefined": "ENSP00000382670.2:p.Arg262Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391651",
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.2:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Arg262Gln",
        "hgvsWellDefined": "NP_001073945.1:p.Arg262Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "XM_011513691.1:c.422G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511993.1:p.Arg141Gln",
        "hgvsWellDefined": "XP_011511993.1:p.Arg141Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391651",
      "coordinates": [
        {
          "allele": "A",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.3:c.785G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Arg262Gln",
        "hgvsWellDefined": "NP_001073945.1:p.Arg262Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.785G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.785G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Arg262Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Arg262Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}