{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA17186509",
  "communityStandardTitle": [
    "NM_007274.4(ACOT7):c.830-2479C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.6343825G>A?assembly=hg19",
        "id": "chr1:g.6343825G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.6283765G>A?assembly=hg38",
        "id": "chr1:g.6283765G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10489535",
        "rs": 10489535
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-6343825-G-A?dataset=gnomad_r2_1",
        "id": "1-6343825-G-A",
        "variant": "1:6343825 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-6283765-G-A?dataset=gnomad_r3",
        "id": "1-6283765-G-A",
        "variant": "1:6283765 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-6283765-G-A?dataset=gnomad_r4",
        "id": "1-6283765-G-A",
        "variant": "1:6283765 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 6283765,
          "referenceAllele": "G",
          "start": 6283764
        }
      ],
      "hgvs": [
        "NC_000001.11:g.6283765G>A",
        "CM000663.2:g.6283765G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 6343825,
          "referenceAllele": "G",
          "start": 6343824
        }
      ],
      "hgvs": [
        "NC_000001.10:g.6343825G>A",
        "CM000663.1:g.6343825G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 6266412,
          "referenceAllele": "G",
          "start": 6266411
        }
      ],
      "hgvs": [
        "NC_000001.9:g.6266412G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1197,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000361521.9:c.830-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354615.4:n.830-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749490",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361521.9:c.830-2479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007274.4:c.830-2479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354615.4:n.830-2479C>T"
          },
          "RefSeq": {
            "hgvs": "NP_009205.3:n.830-2479C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1821,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1821,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000361521.8:c.830-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354615.4:n.830-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1205,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1205,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000377842.7:c.707-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367073.3:n.707-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000377845.7:c.770-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367076.3:n.770-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1006,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000377855.6:c.860-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367086.2:n.860-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "endIntronDirection": "-",
          "endIntronOffset": 968,
          "referenceAllele": "C",
          "start": 791,
          "startIntronDirection": "-",
          "startIntronOffset": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000377860.8:c.734-969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367091.4:n.734-969C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "endIntronDirection": "-",
          "endIntronOffset": 876,
          "referenceAllele": "C",
          "start": 791,
          "startIntronDirection": "-",
          "startIntronOffset": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000418124.5:c.734-877C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402532.1:n.734-877C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 711,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000473466.2:c.683-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465719.1:n.683-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 968,
          "referenceAllele": "C",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000481175.1:n.642-969C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000545482.5:c.830-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439218.2:n.830-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 791,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "ENST00000608083.5:c.734-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476610.1:n.734-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1196,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_007274.3:c.830-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009205.3:n.830-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1016,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181864.2:c.860-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863654.1:n.860-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181865.2:c.770-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863655.1:n.770-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181866.2:c.707-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863656.1:n.707-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181864.3:c.860-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863654.1:n.860-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 831,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181865.3:c.770-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863655.1:n.770-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_181866.3:c.707-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_863656.1:n.707-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "endIntronDirection": "-",
          "endIntronOffset": 2478,
          "referenceAllele": "C",
          "start": 1197,
          "startIntronDirection": "-",
          "startIntronOffset": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024157",
      "geneNCBI_id": 11332,
      "geneSymbol": "ACOT7",
      "hgvs": [
        "NM_007274.4:c.830-2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009205.3:n.830-2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361521.9:c.830-2479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007274.4:c.830-2479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354615.4:n.830-2479C>T"
          },
          "RefSeq": {
            "hgvs": "NP_009205.3:n.830-2479C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}