{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA111946890",
  "communityStandardTitle": [
    "NM_001995.5(ACSL1):c.-33+1279C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.185745791G>C?assembly=hg19",
        "id": "chr4:g.185745791G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.184824637G>C?assembly=hg38",
        "id": "chr4:g.184824637G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/928291108",
        "rs": 928291108
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-184824637-G-C?dataset=gnomad_r3",
        "id": "4-184824637-G-C",
        "variant": "4:184824637 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-184824637-G-C?dataset=gnomad_r4",
        "id": "4-184824637-G-C",
        "variant": "4:184824637 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 184824637,
          "referenceAllele": "G",
          "start": 184824636
        }
      ],
      "hgvs": [
        "NC_000004.12:g.184824637G>C",
        "CM000666.2:g.184824637G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 185745791,
          "referenceAllele": "G",
          "start": 185745790
        }
      ],
      "hgvs": [
        "NC_000004.11:g.185745791G>C",
        "CM000666.1:g.185745791G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 185982785,
          "referenceAllele": "G",
          "start": 185982784
        }
      ],
      "hgvs": [
        "NC_000004.10:g.185982785G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000505492.2:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425640.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000706366.1:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516351.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 529,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000706369.1:c.-33+529C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516354.1:n.-33+529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000281455.7:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281455.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281455.7:c.-33+1279C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001995.5:c.-33+1279C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281455.2:n.-33+1279C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001986.2:n.-33+1279C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000281455.6:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281455.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000454703.6:c.-319+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407165.2:n.-319+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000504900.5:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424935.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000507295.5:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426244.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 1888,
          "referenceAllele": "C",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "ENST00000515030.5:c.-33+1888C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422607.1:n.-33+1888C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001286711.1:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273640.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001995.3:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001986.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "+",
          "endIntronOffset": 1888,
          "referenceAllele": "C",
          "start": 69,
          "startIntronDirection": "+",
          "startIntronOffset": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "XM_017007887.1:c.-33+1888C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863376.1:n.-33+1888C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "XM_017007888.2:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863377.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001995.4:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001986.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001286711.2:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273640.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001381877.1:c.-98+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368806.1:n.-98+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 529,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001381878.1:c.-33+529C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368807.1:n.-33+529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001381884.1:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368813.1:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001381885.1:c.-98+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368814.1:n.-98+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NM_001995.5:c.-33+1279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001986.2:n.-33+1279C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727233",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281455.7:c.-33+1279C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001995.5:c.-33+1279C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281455.2:n.-33+1279C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001986.2:n.-33+1279C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NR_167702.1:n.53+1279C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NR_167703.1:n.53+1279C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NR_167704.1:n.53+1279C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NR_167705.1:n.53+1279C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "endIntronDirection": "+",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 53,
          "startIntronDirection": "+",
          "startIntronOffset": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003569",
      "geneNCBI_id": 2180,
      "geneSymbol": "ACSL1",
      "hgvs": [
        "NR_167706.1:n.53+1279C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731806"
    }
  ],
  "type": "nucleotide"
}