{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5167954",
  "communityStandardTitle": [
    "NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310472[alleleid]",
        "alleleId": 310472,
        "preferredName": "NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364394",
        "RCV": [
          "RCV000340403",
          "RCV000590457",
          "RCV000396628"
        ],
        "variationId": 364394
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-107560784-C-T",
        "id": "9-107560784-C-T",
        "variant": "9:107560784 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.107560784C>T?assembly=hg19",
        "id": "chr9:g.107560784C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104798503C>T?assembly=hg38",
        "id": "chr9:g.104798503C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150125857",
        "rs": 150125857
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-107560784-C-T?dataset=gnomad_r2_1",
        "id": "9-107560784-C-T",
        "variant": "9:107560784 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104798503-C-T?dataset=gnomad_r3",
        "id": "9-104798503-C-T",
        "variant": "9:104798503 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104798503-C-T?dataset=gnomad_r4",
        "id": "9-104798503-C-T",
        "variant": "9:104798503 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 104798503,
          "referenceAllele": "C",
          "start": 104798502
        }
      ],
      "hgvs": [
        "NC_000009.12:g.104798503C>T",
        "CM000671.2:g.104798503C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 107560784,
          "referenceAllele": "C",
          "start": 107560783
        }
      ],
      "hgvs": [
        "NC_000009.11:g.107560784C>T",
        "CM000671.1:g.107560784C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 106600605,
          "referenceAllele": "C",
          "start": 106600604
        }
      ],
      "hgvs": [
        "NC_000009.10:g.106600605C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134653,
          "referenceAllele": "G",
          "start": 134652
        }
      ],
      "hgvs": [
        "NG_007981.1:g.134653G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000749"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5352,
          "referenceAllele": "G",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.8:c.5039G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Arg1680Gln",
        "hgvsWellDefined": "ENSP00000363868.3:p.Arg1680Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.5039G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.5039G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Arg1680Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Arg1680Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000678995.1:c.5045G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504612.1:p.Arg1682Gln",
        "hgvsWellDefined": "ENSP00000504612.1:p.Arg1682Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5434,
          "referenceAllele": "G",
          "start": 5433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.7:c.5039G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Arg1680Gln",
        "hgvsWellDefined": "ENSP00000363868.3:p.Arg1680Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5443,
          "referenceAllele": "G",
          "start": 5442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.3:c.5039G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Arg1680Gln",
        "hgvsWellDefined": "NP_005493.2:p.Arg1680Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.1:c.5045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Arg1682Gln",
        "hgvsWellDefined": "XP_005251830.1:p.Arg1682Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.1:c.4865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Arg1622Gln",
        "hgvsWellDefined": "XP_005251833.1:p.Arg1622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.1:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_011516641.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5429,
          "referenceAllele": "G",
          "start": 5428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.1:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_011516642.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5427,
          "referenceAllele": "G",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.1:c.5114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Arg1705Gln",
        "hgvsWellDefined": "XP_011516643.1:p.Arg1705Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5136,
          "referenceAllele": "G",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.1:c.4682G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Arg1561Gln",
        "hgvsWellDefined": "XP_011516644.1:p.Arg1561Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518343.1:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516645.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_011516645.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5358,
          "referenceAllele": "G",
          "start": 5357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.3:c.5045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Arg1682Gln",
        "hgvsWellDefined": "XP_005251830.1:p.Arg1682Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.3:c.4865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Arg1622Gln",
        "hgvsWellDefined": "XP_005251833.1:p.Arg1622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.3:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_011516641.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5648,
          "referenceAllele": "G",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.3:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_011516642.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5427,
          "referenceAllele": "G",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.3:c.5114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Arg1705Gln",
        "hgvsWellDefined": "XP_011516643.1:p.Arg1705Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5135,
          "referenceAllele": "G",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.3:c.4682G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Arg1561Gln",
        "hgvsWellDefined": "XP_011516644.1:p.Arg1561Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5632,
          "referenceAllele": "G",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014378.2:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869867.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_016869867.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6039,
          "referenceAllele": "G",
          "start": 6038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014379.2:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869868.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_016869868.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5365,
          "referenceAllele": "G",
          "start": 5364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014380.2:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869869.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_016869869.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5431,
          "referenceAllele": "G",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014381.2:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869870.1:p.Arg1707Gln",
        "hgvsWellDefined": "XP_016869870.1:p.Arg1707Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5896,
          "referenceAllele": "G",
          "start": 5895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014382.2:c.4982G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869871.1:p.Arg1661Gln",
        "hgvsWellDefined": "XP_016869871.1:p.Arg1661Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5433,
          "referenceAllele": "G",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XR_001746223.1:n.5433G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446147",
      "coordinates": [
        {
          "allele": "A",
          "end": 5352,
          "referenceAllele": "G",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.5039G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Arg1680Gln",
        "hgvsWellDefined": "NP_005493.2:p.Arg1680Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.5039G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.5039G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Arg1680Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Arg1680Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}