{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5168723",
  "communityStandardTitle": [
    "NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3982670",
        "active": true,
        "id": "COSM3982670"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316002[alleleid]",
        "alleleId": 316002,
        "preferredName": "NM_005502.4(ABCA1):c.2473G>A (p.Val825Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364428",
        "RCV": [
          "RCV000311949",
          "RCV000371215",
          "RCV001509914",
          "RCV002446620"
        ],
        "variationId": 364428
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-107588033-C-T",
        "id": "9-107588033-C-T",
        "variant": "9:107588033 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.107588033C>T?assembly=hg19",
        "id": "chr9:g.107588033C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104825752C>T?assembly=hg38",
        "id": "chr9:g.104825752C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2066715",
        "rs": 2066715
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-107588033-C-T?dataset=gnomad_r2_1",
        "id": "9-107588033-C-T",
        "variant": "9:107588033 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104825752-C-T?dataset=gnomad_r3",
        "id": "9-104825752-C-T",
        "variant": "9:104825752 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104825752-C-T?dataset=gnomad_r4",
        "id": "9-104825752-C-T",
        "variant": "9:104825752 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 104825752,
          "referenceAllele": "C",
          "start": 104825751
        }
      ],
      "hgvs": [
        "NC_000009.12:g.104825752C>T",
        "CM000671.2:g.104825752C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 107588033,
          "referenceAllele": "C",
          "start": 107588032
        }
      ],
      "hgvs": [
        "NC_000009.11:g.107588033C>T",
        "CM000671.1:g.107588033C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 106627854,
          "referenceAllele": "C",
          "start": 106627853
        }
      ],
      "hgvs": [
        "NC_000009.10:g.106627854C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107404,
          "referenceAllele": "G",
          "start": 107403
        }
      ],
      "hgvs": [
        "NG_007981.1:g.107404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000749"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.8:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Val825Ile",
        "hgvsWellDefined": "ENSP00000363868.3:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.2473G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.2473G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Val825Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Val825Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000678995.1:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504612.1:p.Val825Ile",
        "hgvsWellDefined": "ENSP00000504612.1:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.7:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:p.Val825Ile",
        "hgvsWellDefined": "ENSP00000363868.3:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000494467.1:n.646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446095",
      "coordinates": [
        {
          "allele": "A",
          "end": 2877,
          "referenceAllele": "G",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.3:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Val825Ile",
        "hgvsWellDefined": "NP_005493.2:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.1:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Val825Ile",
        "hgvsWellDefined": "XP_005251830.1:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "referenceAllele": "G",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.1:c.2293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Val765Ile",
        "hgvsWellDefined": "XP_005251833.1:p.Val765Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.1:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516641.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2857,
          "referenceAllele": "G",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.1:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516642.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.1:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516643.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.1:c.2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Val704Ile",
        "hgvsWellDefined": "XP_011516644.1:p.Val704Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518343.1:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516645.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516645.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.1:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516646.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.3:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:p.Val825Ile",
        "hgvsWellDefined": "XP_005251830.1:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "referenceAllele": "G",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.3:c.2293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:p.Val765Ile",
        "hgvsWellDefined": "XP_005251833.1:p.Val765Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.3:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516641.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3076,
          "referenceAllele": "G",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.3:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516642.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.3:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516643.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.3:c.2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:p.Val704Ile",
        "hgvsWellDefined": "XP_011516644.1:p.Val704Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518344.2:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516646.1:p.Val850Ile",
        "hgvsWellDefined": "XP_011516646.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3060,
          "referenceAllele": "G",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014378.2:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869867.1:p.Val850Ile",
        "hgvsWellDefined": "XP_016869867.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3467,
          "referenceAllele": "G",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014379.2:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869868.1:p.Val850Ile",
        "hgvsWellDefined": "XP_016869868.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014380.2:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869869.1:p.Val850Ile",
        "hgvsWellDefined": "XP_016869869.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2859,
          "referenceAllele": "G",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014381.2:c.2548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869870.1:p.Val850Ile",
        "hgvsWellDefined": "XP_016869870.1:p.Val850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3324,
          "referenceAllele": "G",
          "start": 3323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014382.2:c.2410G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869871.1:p.Val804Ile",
        "hgvsWellDefined": "XP_016869871.1:p.Val804Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XR_001746223.1:n.2861G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645446095",
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.2473G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Val825Ile",
        "hgvsWellDefined": "NP_005493.2:p.Val825Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.2473G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.2473G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Val825Ile"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Val825Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}