{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117716",
  "communityStandardTitle": [
    "NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20785[alleleid]",
        "alleleId": 20785,
        "preferredName": "NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5746",
        "RCV": [
          "RCV000006102",
          "RCV002512818",
          "RCV003398450"
        ],
        "variationId": 5746
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-131114938-A-G",
        "id": "9-131114938-A-G",
        "variant": "9:131114938 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131114938A>G?assembly=hg19",
        "id": "chr9:g.131114938A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.128352659A>G?assembly=hg38",
        "id": "chr9:g.128352659A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853134",
        "rs": 137853134
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131114938-A-G?dataset=gnomad_r2_1",
        "id": "9-131114938-A-G",
        "variant": "9:131114938 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-128352659-A-G?dataset=gnomad_r3",
        "id": "9-128352659-A-G",
        "variant": "9:128352659 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-128352659-A-G?dataset=gnomad_r4",
        "id": "9-128352659-A-G",
        "variant": "9:128352659 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 128352659,
          "referenceAllele": "A",
          "start": 128352658
        }
      ],
      "hgvs": [
        "NC_000009.12:g.128352659A>G",
        "CM000671.2:g.128352659A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 131114938,
          "referenceAllele": "A",
          "start": 131114937
        }
      ],
      "hgvs": [
        "NC_000009.11:g.131114938A>G",
        "CM000671.1:g.131114938A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130154759,
          "referenceAllele": "A",
          "start": 130154758
        }
      ],
      "hgvs": [
        "NC_000009.10:g.130154759A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17100,
          "referenceAllele": "A",
          "start": 17099
        }
      ],
      "hgvs": [
        "NG_017057.1:g.17100A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003393"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "referenceAllele": "A",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "ENST00000300456.5:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300456.3:p.Gln300Arg",
        "hgvsWellDefined": "ENSP00000300456.3:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300456.5:c.899A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005094.4:c.899A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300456.3:p.Gln300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005085.2:p.Gln300Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "A",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "ENST00000300456.4:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300456.3:p.Gln300Arg",
        "hgvsWellDefined": "ENSP00000300456.3:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254880"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 2518,
          "referenceAllele": "A",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "ENST00000372870.5:c.232-2519A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361961.1:n.232-2519A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "A",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "NM_005094.3:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005085.2:p.Gln300Arg",
        "hgvsWellDefined": "NP_005085.2:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "XM_017014222.1:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869711.1:p.Gln300Arg",
        "hgvsWellDefined": "XP_016869711.1:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "XM_024447391.1:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303159.1:p.Gln300Arg",
        "hgvsWellDefined": "XP_024303159.1:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "referenceAllele": "A",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010998",
      "geneNCBI_id": 10999,
      "geneSymbol": "SLC27A4",
      "hgvs": [
        "NM_005094.4:c.899A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005085.2:p.Gln300Arg",
        "hgvsWellDefined": "NP_005085.2:p.Gln300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300456.5:c.899A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005094.4:c.899A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300456.3:p.Gln300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005085.2:p.Gln300Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}