{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4340893",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=303582[alleleid]",
        "alleleId": 303582,
        "preferredName": "NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/360917",
        "RCV": [
          "RCV000396766",
          "RCV000729990",
          "RCV001861309"
        ],
        "variationId": 360917
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-92122309-T-C",
        "id": "7-92122309-T-C",
        "variant": "7:92122309 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92122309T>C?assembly=hg19",
        "id": "chr7:g.92122309T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92492995T>C?assembly=hg38",
        "id": "chr7:g.92492995T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776231556",
        "rs": 776231556
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92122309-T-C?dataset=gnomad_r2_1",
        "id": "7-92122309-T-C",
        "variant": "7:92122309 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92492995-T-C?dataset=gnomad_r3",
        "id": "7-92492995-T-C",
        "variant": "7:92492995 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92492995-T-C?dataset=gnomad_r4",
        "id": "7-92492995-T-C",
        "variant": "7:92492995 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92492995,
          "referenceAllele": "T",
          "start": 92492994
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92492995T>C",
        "CM000669.2:g.92492995T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 92122309,
          "referenceAllele": "T",
          "start": 92122308
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92122309T>C",
        "CM000669.1:g.92122309T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 91960245,
          "referenceAllele": "T",
          "start": 91960244
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91960245T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40537,
          "referenceAllele": "A",
          "start": 40536
        }
      ],
      "hgvs": [
        "NG_008341.1:g.40537A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40537,
          "referenceAllele": "A",
          "start": 40536
        }
      ],
      "hgvs": [
        "NG_008341.2:g.40537A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3250,
          "referenceAllele": "A",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.3165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Gln1055="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3165A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3165A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gln1055="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gln1055="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "A",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.3165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Gln1055="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2994,
          "referenceAllele": "A",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.2994A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Gln998="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.2199A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Gln733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3204,
          "referenceAllele": "A",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.3204A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4220,
          "referenceAllele": "A",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.4220A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183829",
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "A",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.3165A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gln1055="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665135",
      "coordinates": [
        {
          "allele": "G",
          "end": 3090,
          "referenceAllele": "A",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.2994A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gln998="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826666009",
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "A",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.2541A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gln847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "A",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.1416A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Gln472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "A",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.3261A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2192,
          "referenceAllele": "A",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.1416A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Gln472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2192,
          "referenceAllele": "A",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.2192A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4033,
          "referenceAllele": "T",
          "start": 4032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_001744842.2:n.4033T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3964,
          "referenceAllele": "T",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_001744843.2:n.3964T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4090,
          "referenceAllele": "T",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956472.1:n.4090T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4121,
          "referenceAllele": "T",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956473.1:n.4121T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4038,
          "referenceAllele": "T",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956474.1:n.4038T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "A",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.3212A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2815,
          "referenceAllele": "T",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927494.3:n.2815T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2812,
          "referenceAllele": "T",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927500.3:n.2812T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2746,
          "referenceAllele": "T",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927503.3:n.2746T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183829",
      "coordinates": [
        {
          "allele": "G",
          "end": 3250,
          "referenceAllele": "A",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.3165A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gln1055="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3165A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3165A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gln1055="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gln1055="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665135",
      "coordinates": [
        {
          "allele": "G",
          "end": 3079,
          "referenceAllele": "A",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.2994A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gln998="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826666009",
      "coordinates": [
        {
          "allele": "G",
          "end": 3285,
          "referenceAllele": "A",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.2541A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gln847="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}