{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5168773",
  "communityStandardTitle": [
    "NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316020[alleleid]",
        "alleleId": 316020,
        "preferredName": "NM_005502.4(ABCA1):c.2283C>T (p.Tyr761=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364434",
        "RCV": [
          "RCV000289329",
          "RCV000344342",
          "RCV002058759",
          "RCV002446624"
        ],
        "variationId": 364434
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-107589283-G-A",
        "id": "9-107589283-G-A",
        "variant": "9:107589283 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.107589283G>A?assembly=hg19",
        "id": "chr9:g.107589283G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104827002G>A?assembly=hg38",
        "id": "chr9:g.104827002G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201076284",
        "rs": 201076284
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-107589283-G-A?dataset=gnomad_r2_1",
        "id": "9-107589283-G-A",
        "variant": "9:107589283 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104827002-G-A?dataset=gnomad_r3",
        "id": "9-104827002-G-A",
        "variant": "9:104827002 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104827002-G-A?dataset=gnomad_r4",
        "id": "9-104827002-G-A",
        "variant": "9:104827002 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 104827002,
          "referenceAllele": "G",
          "start": 104827001
        }
      ],
      "hgvs": [
        "NC_000009.12:g.104827002G>A",
        "CM000671.2:g.104827002G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 107589283,
          "referenceAllele": "G",
          "start": 107589282
        }
      ],
      "hgvs": [
        "NC_000009.11:g.107589283G>A",
        "CM000671.1:g.107589283G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 106629104,
          "referenceAllele": "G",
          "start": 106629103
        }
      ],
      "hgvs": [
        "NC_000009.10:g.106629104G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106154,
          "referenceAllele": "C",
          "start": 106153
        }
      ],
      "hgvs": [
        "NG_007981.1:g.106154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000749"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.8:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.2283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.2283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Tyr761="
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Tyr761="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000678995.1:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504612.1:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2678,
          "referenceAllele": "C",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.7:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000494467.1:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592020",
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "referenceAllele": "C",
          "start": 2686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.3:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.1:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.1:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.1:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2667,
          "referenceAllele": "C",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.1:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.1:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.1:c.1920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Tyr640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518343.1:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516645.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.1:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.3:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.3:c.2103C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Tyr701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.3:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2886,
          "referenceAllele": "C",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.3:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.3:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.3:c.1920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Tyr640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.2:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2870,
          "referenceAllele": "C",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014378.2:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869867.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014379.2:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869868.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014380.2:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869869.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014381.2:c.2358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869870.1:p.Tyr786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014382.2:c.2220C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869871.1:p.Tyr740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XR_001746223.1:n.2671C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829592020",
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.2283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Tyr761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.2283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.2283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Tyr761="
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Tyr761="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}