{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1484848654",
  "communityStandardTitle": [
    "NM_024090.3(ELOVL6):c.90-143G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10011926",
        "rs": 10011926
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 110105771,
          "referenceAllele": "C",
          "start": 110105770
        }
      ],
      "hgvs": [
        "NC_000004.12:g.110105771C>G",
        "CM000666.2:g.110105771C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111026927,
          "referenceAllele": "C",
          "start": 111026926
        }
      ],
      "hgvs": [
        "NC_000004.11:g.111026927C>G",
        "CM000666.1:g.111026927C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111246376,
          "referenceAllele": "C",
          "start": 111246375
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111246376C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000302274.8:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304736.3:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302274.8:c.90-143G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024090.3:c.90-143G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304736.3:n.90-143G>C"
          },
          "RefSeq": {
            "hgvs": "NP_076995.1:n.90-143G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 430,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000302274.7:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304736.3:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000394607.7:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378105.3:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000503885.1:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426086.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000506461.1:n.305-143G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000506625.5:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425488.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "ENST00000514184.5:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424023.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "NM_001130721.1:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124193.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "NM_024090.2:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_076995.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "XM_011532233.1:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530535.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "XM_011532234.1:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530536.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "XM_011532235.1:c.-192-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530537.1:n.-192-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "XM_011532233.3:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530535.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "XM_011532234.3:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530536.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "NM_001130721.2:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124193.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 142,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015829",
      "geneNCBI_id": 79071,
      "geneSymbol": "ELOVL6",
      "hgvs": [
        "NM_024090.3:c.90-143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_076995.1:n.90-143G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698666",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302274.8:c.90-143G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024090.3:c.90-143G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304736.3:n.90-143G>C"
          },
          "RefSeq": {
            "hgvs": "NP_076995.1:n.90-143G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}