{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2317519053",
  "communityStandardTitle": [
    "NM_002085.5(GPX4):c.36G= (p.Pro12=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4807542",
        "rs": 4807542
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1104079,
          "referenceAllele": "G",
          "start": 1104078
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1104079G=",
        "CM000681.2:g.1104079G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1104078,
          "referenceAllele": "G",
          "start": 1104077
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1104078G=",
        "CM000681.1:g.1104078G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1055078,
          "referenceAllele": "G",
          "start": 1055077
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1055078G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5154,
          "referenceAllele": "G",
          "start": 5153
        }
      ],
      "hgvs": [
        "NG_050621.1:g.5154G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616741"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000593032.6:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465828.4:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98,
          "referenceAllele": "G",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000706713.1:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516510.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000706714.1:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516511.1:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "referenceAllele": "G",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000354171.13:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346103.7:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354171.13:c.36G="
          },
          "RefSeq": {
            "hgvs": "NM_002085.5:c.36G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346103.7:p.Pro12="
          },
          "RefSeq": {
            "hgvs": "NP_002076.2:p.Pro12="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000589115.6:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466872.3:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000354171.12:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346103.7:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7,
          "referenceAllele": "G",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000588919.5:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464989.3:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000589115.5:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466872.2:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000593032.5:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465828.3:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000611653.4:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483655.1:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "ENST00000616066.4:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485000.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825387706",
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "NM_001039847.2:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034936.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829356192",
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "NM_002085.4:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002076.2:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825387706",
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "referenceAllele": "G",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "NM_001039847.3:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034936.1:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "NM_001367832.1:c.-46G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001354761.1:n.-46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829356192",
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "referenceAllele": "G",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004556",
      "geneNCBI_id": 2879,
      "geneSymbol": "GPX4",
      "hgvs": [
        "NM_002085.5:c.36G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002076.2:p.Pro12="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354171.13:c.36G="
          },
          "RefSeq": {
            "hgvs": "NM_002085.5:c.36G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346103.7:p.Pro12="
          },
          "RefSeq": {
            "hgvs": "NP_002076.2:p.Pro12="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}