{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13461918",
  "communityStandardTitle": [
    "NM_004265.4(FADS2):c.618+1553C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61609750C>T?assembly=hg19",
        "id": "chr11:g.61609750C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61842278C>T?assembly=hg38",
        "id": "chr11:g.61842278C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/174583",
        "rs": 174583
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61609750-C-T?dataset=gnomad_r2_1",
        "id": "11-61609750-C-T",
        "variant": "11:61609750 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61842278-C-T?dataset=gnomad_r3",
        "id": "11-61842278-C-T",
        "variant": "11:61842278 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61842278-C-T?dataset=gnomad_r4",
        "id": "11-61842278-C-T",
        "variant": "11:61842278 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61842278,
          "referenceAllele": "C",
          "start": 61842277
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61842278C>T",
        "CM000673.2:g.61842278C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61609750,
          "referenceAllele": "C",
          "start": 61609749
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61609750C>T",
        "CM000673.1:g.61609750C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61366326,
          "referenceAllele": "C",
          "start": 61366325
        }
      ],
      "hgvs": [
        "NC_000011.8:g.61366326C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000278840.9:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278840.4:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278840.9:c.618+1553C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004265.4:c.618+1553C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278840.4:n.618+1553C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004256.1:n.618+1553C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000257261.10:c.552+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257261.6:n.552+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 1248,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000278840.8:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278840.4:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 560,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000517312.5:c.252+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430225.1:n.252+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000518606.5:c.252+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430054.1:n.252+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000520145.1:n.84+1553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 429,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000521571.6:c.-85+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443867.1:n.-85+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000521849.5:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431091.1:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "ENST00000522056.5:c.525+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429500.1:n.525+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 635,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "NM_001281501.1:c.552+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268430.1:n.552+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 704,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "NM_001281502.1:c.525+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268431.1:n.525+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 976,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "NM_004265.3:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004256.1:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 909,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "XM_011545395.1:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543697.1:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 1553,
          "referenceAllele": "C",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003575",
      "geneNCBI_id": 9415,
      "geneSymbol": "FADS2",
      "hgvs": [
        "NM_004265.4:c.618+1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004256.1:n.618+1553C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278840.9:c.618+1553C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004265.4:c.618+1553C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278840.4:n.618+1553C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004256.1:n.618+1553C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}