{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10629628",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311933[alleleid]",
        "alleleId": 311933,
        "preferredName": "NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/360912",
        "RCV": [
          "RCV000374492",
          "RCV003758756"
        ],
        "variationId": 360912
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92119037G>A?assembly=hg19",
        "id": "chr7:g.92119037G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92489723G>A?assembly=hg38",
        "id": "chr7:g.92489723G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886062501",
        "rs": 886062501
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92489723-G-A?dataset=gnomad_r4",
        "id": "7-92489723-G-A",
        "variant": "7:92489723 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 92489723,
          "referenceAllele": "G",
          "start": 92489722
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92489723G>A",
        "CM000669.2:g.92489723G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 92119037,
          "referenceAllele": "G",
          "start": 92119036
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92119037G>A",
        "CM000669.1:g.92119037G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 91956973,
          "referenceAllele": "G",
          "start": 91956972
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91956973G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43809,
          "referenceAllele": "C",
          "start": 43808
        }
      ],
      "hgvs": [
        "NG_008341.1:g.43809C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43809,
          "referenceAllele": "C",
          "start": 43808
        }
      ],
      "hgvs": [
        "NG_008341.2:g.43809C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.3627C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Ser1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3627C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3627C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Ser1209="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Ser1209="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3723,
          "referenceAllele": "C",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.3627C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Ser1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3456,
          "referenceAllele": "C",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.3456C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Ser1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Ser887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000469417.1:n.524C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000477342.1:n.72C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3666,
          "referenceAllele": "C",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.3666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4682,
          "referenceAllele": "C",
          "start": 4681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000496420.5:n.4682C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825184078",
      "coordinates": [
        {
          "allele": "T",
          "end": 3723,
          "referenceAllele": "C",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.3627C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Ser1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665262",
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "C",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.3456C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Ser1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826666064",
      "coordinates": [
        {
          "allele": "T",
          "end": 3758,
          "referenceAllele": "C",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.3003C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Ser1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.1878C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Ser626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3723,
          "referenceAllele": "C",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.3723C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927494.1:n.1036-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 362,
          "referenceAllele": "G",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927495.1:n.1036-363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927496.1:n.1041-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 362,
          "referenceAllele": "G",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927497.1:n.1036-363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927498.1:n.1124-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927500.1:n.1033-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 362,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927502.1:n.1033-363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927503.1:n.967-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2654,
          "referenceAllele": "C",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.1878C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Ser626="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2654,
          "referenceAllele": "C",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.2654C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_001744842.2:n.2281-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2211,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 2211,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_001744843.2:n.2212-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2280,
          "endIntronDirection": "-",
          "endIntronOffset": 362,
          "referenceAllele": "G",
          "start": 2280,
          "startIntronDirection": "-",
          "startIntronOffset": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956472.1:n.2281-363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956473.1:n.2369-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_002956474.1:n.2286-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3674,
          "referenceAllele": "C",
          "start": 3673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.3674C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1062,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1062,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927494.3:n.1063-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927500.3:n.1060-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 1519,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927503.3:n.994-1520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825184078",
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.3627C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Ser1209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3627C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3627C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Ser1209="
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Ser1209="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665262",
      "coordinates": [
        {
          "allele": "T",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.3456C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Ser1152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826666064",
      "coordinates": [
        {
          "allele": "T",
          "end": 3747,
          "referenceAllele": "C",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.3003C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Ser1001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}