{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA138230735",
  "communityStandardTitle": [
    "NM_000287.4(PEX6):c.1130+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23161[alleleid]",
        "alleleId": 23161,
        "preferredName": "NM_000287.4(PEX6):c.1130+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8122",
        "RCV": [
          "RCV000008592",
          "RCV001239904"
        ],
        "variationId": 8122
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42941740C>T?assembly=hg19",
        "id": "chr6:g.42941740C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42974002C>T?assembly=hg38",
        "id": "chr6:g.42974002C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608213",
        "rs": 267608213
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 42974002,
          "referenceAllele": "C",
          "start": 42974001
        }
      ],
      "hgvs": [
        "NC_000006.12:g.42974002C>T",
        "CM000668.2:g.42974002C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 42941740,
          "referenceAllele": "C",
          "start": 42941739
        }
      ],
      "hgvs": [
        "NC_000006.11:g.42941740C>T",
        "CM000668.1:g.42941740C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43049718,
          "referenceAllele": "C",
          "start": 43049717
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43049718C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10242,
          "referenceAllele": "G",
          "start": 10241
        }
      ],
      "hgvs": [
        "NG_008370.1:g.10242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001059"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.13:c.1130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:n.1130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.1130+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.1130+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:n.1130+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:n.1130+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1130,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000244546.4:c.1130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244546.4:n.1130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1200,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1200,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "ENST00000304611.12:c.1130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303511.8:n.1130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.3:c.1130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:n.1130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 959,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.1:c.866+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:n.866+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.1:n.1223+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "endIntronDirection": "+",
          "endIntronOffset": 873,
          "referenceAllele": "G",
          "start": 1139,
          "startIntronDirection": "+",
          "startIntronOffset": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.1:c.1046+873G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:n.1046+873G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XR_926246.1:n.1223+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "endIntronDirection": "+",
          "endIntronOffset": 873,
          "referenceAllele": "G",
          "start": 2109,
          "startIntronDirection": "+",
          "startIntronOffset": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XM_011514661.2:c.1046+873G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512963.1:n.1046+873G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2204,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2204,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "XR_001743466.2:n.2204+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_000287.4:c.1130+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000278.3:n.1130+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304611.13:c.1130+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000287.4:c.1130+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303511.8:n.1130+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000278.3:n.1130+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 897,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NM_001316313.2:c.866+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303242.1:n.866+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NR_133009.2:n.1161+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703418"
    }
  ],
  "type": "nucleotide"
}