{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3811222",
  "communityStandardTitle": [
    "NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587441[alleleid]",
        "alleleId": 587441,
        "preferredName": "NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596380",
        "RCV": [
          "RCV000732195",
          "RCV001245942",
          "RCV001830618",
          "RCV003338774"
        ],
        "variationId": 596380
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-42935216-C-G",
        "id": "6-42935216-C-G",
        "variant": "6:42935216 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42935216C>G?assembly=hg19",
        "id": "chr6:g.42935216C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42967478C>G?assembly=hg38",
        "id": "chr6:g.42967478C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375288192",
        "rs": 375288192
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42935216-C-G?dataset=gnomad_r2_1",
        "id": "6-42935216-C-G",
        "variant": "6:42935216 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42967478-C-G?dataset=gnomad_r3",
        "id": "6-42967478-C-G",
        "variant": "6:42967478 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42967478-C-G?dataset=gnomad_r4",
        "id": "6-42967478-C-G",
        "variant": "6:42967478 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42967478,
          "referenceAllele": "C",
          "start": 42967477
        }
      ],
      "hgvs": [
        "NC_000006.12:g.42967478C>G",
        "CM000668.2:g.42967478C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42935216,
          "referenceAllele": "C",
          "start": 42935215
        }
      ],
      "hgvs": [
        "NC_000006.11:g.42935216C>G",
        "CM000668.1:g.42935216C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 43043194,
          "referenceAllele": "C",
          "start": 43043193
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43043194C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16766,
          "referenceAllele": "G",
          "start": 16765
        }
      ],
      "hgvs": [
        "NG_008370.1:g.16766G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001059"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.13:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:p.Glu592Gln",
        "hgvsWellDefined": "ENSP00000303511.8:p.Glu592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.1774G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.1774G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:p.Glu592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:p.Glu592Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1774,
          "referenceAllele": "G",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000244546.4:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244546.4:p.Glu592Gln",
        "hgvsWellDefined": "ENSP00000244546.4:p.Glu592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.12:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:p.Glu592Gln",
        "hgvsWellDefined": "ENSP00000303511.8:p.Glu592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195361",
      "coordinates": [
        {
          "allele": "C",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.3:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:p.Glu592Gln",
        "hgvsWellDefined": "NP_000278.3:p.Glu592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.1:c.1510G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:p.Glu504Gln",
        "hgvsWellDefined": "NP_001303242.1:p.Glu504Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.1:n.1867G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1783,
          "referenceAllele": "G",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.1:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:p.Glu564Gln",
        "hgvsWellDefined": "XP_011512963.1:p.Glu564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XR_926246.1:n.1755G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122802"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2753,
          "referenceAllele": "G",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.2:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:p.Glu564Gln",
        "hgvsWellDefined": "XP_011512963.1:p.Glu564Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2736,
          "referenceAllele": "G",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XR_001743466.2:n.2736G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913195361",
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.4:c.1774G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:p.Glu592Gln",
        "hgvsWellDefined": "NP_000278.3:p.Glu592Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.1774G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.1774G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:p.Glu592Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:p.Glu592Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954047",
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.2:c.1510G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:p.Glu504Gln",
        "hgvsWellDefined": "NP_001303242.1:p.Glu504Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "G",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.2:n.1805G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703418"
    }
  ],
  "type": "nucleotide"
}