{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401059692",
  "communityStandardTitle": [
    "NM_004035.7(ACOX1):c.1728+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2524726[alleleid]",
        "alleleId": 2524726,
        "preferredName": "NM_004035.7(ACOX1):c.1728+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501787",
        "RCV": [
          "RCV003228206"
        ],
        "variationId": 2501787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73945297C>T?assembly=hg19",
        "id": "chr17:g.73945297C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75949216C>T?assembly=hg38",
        "id": "chr17:g.75949216C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2546074464",
        "rs": 2546074464
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75949216,
          "referenceAllele": "C",
          "start": 75949215
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75949216C>T",
        "CM000679.2:g.75949216C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73945297,
          "referenceAllele": "C",
          "start": 73945296
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73945297C>T",
        "CM000679.1:g.73945297C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71456892,
          "referenceAllele": "C",
          "start": 71456891
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71456892C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35148,
          "referenceAllele": "G",
          "start": 35147
        }
      ],
      "hgvs": [
        "NG_008190.1:g.35148G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000932"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000301608.9:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301608.4:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000293217.10:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293217.4:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293217.10:c.1728+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004035.7:c.1728+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293217.4:n.1728+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004026.2:n.1728+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2018,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2018,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000293217.9:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293217.4:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1789,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000301608.8:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301608.4:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1902,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1902,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000572047.5:c.1902+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459936.1:n.1902+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1944,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000573078.5:c.*1217+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458325.1:n.*1217+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000587927.5:c.143+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "ENST00000588968.5:c.182+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2263,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2263,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_001185039.1:c.1614+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171968.1:n.1614+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2089,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_004035.6:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004026.2:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2089,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_007292.5:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009223.2:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1993,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "XM_011524868.1:c.1524+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523170.1:n.1524+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "XM_011524869.1:c.1320+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523171.1:n.1320+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2015,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "XM_011524868.3:c.1524+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523170.1:n.1524+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "XM_011524869.3:c.1320+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523171.1:n.1320+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_004035.7:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004026.2:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293217.10:c.1728+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004035.7:c.1728+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293217.4:n.1728+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004026.2:n.1728+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1995,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_001185039.2:c.1614+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171968.1:n.1614+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1821,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000119",
      "geneNCBI_id": 51,
      "geneSymbol": "ACOX1",
      "hgvs": [
        "NM_007292.6:c.1728+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009223.2:n.1728+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696960"
    }
  ],
  "type": "nucleotide"
}