{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1039017136",
  "communityStandardTitle": [
    "NM_203463.3(CERS6):c.171-15015G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13393173",
        "rs": 13393173
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168532581-G-C?dataset=gnomad_r3",
        "id": "2-168532581-G-C",
        "variant": "2:168532581 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168532581-G-C?dataset=gnomad_r4",
        "id": "2-168532581-G-C",
        "variant": "2:168532581 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 168532581,
          "referenceAllele": "G",
          "start": 168532580
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168532581G>C",
        "CM000664.2:g.168532581G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169389091,
          "referenceAllele": "G",
          "start": 169389090
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169389091G>C",
        "CM000664.1:g.169389091G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169097337,
          "referenceAllele": "G",
          "start": 169097336
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169097337G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "ENST00000305747.11:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306579.6:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745215",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305747.11:c.171-15015G>C"
          },
          "RefSeq": {
            "hgvs": "NM_203463.3:c.171-15015G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306579.6:n.171-15015G>C"
          },
          "RefSeq": {
            "hgvs": "NP_982288.1:n.171-15015G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "ENST00000305747.10:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306579.6:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "ENST00000392687.4:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376453.4:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "NM_001256126.1:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243055.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "NM_203463.2:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_982288.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "XM_024452780.1:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308548.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "XM_024452781.1:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308549.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "NM_001256126.2:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243055.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 15014,
          "referenceAllele": "G",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 15015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023826",
      "geneNCBI_id": 253782,
      "geneSymbol": "CERS6",
      "hgvs": [
        "NM_203463.3:c.171-15015G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_982288.1:n.171-15015G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701647",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305747.11:c.171-15015G>C"
          },
          "RefSeq": {
            "hgvs": "NM_203463.3:c.171-15015G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306579.6:n.171-15015G>C"
          },
          "RefSeq": {
            "hgvs": "NP_982288.1:n.171-15015G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}