{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10628646",
  "communityStandardTitle": [
    "NM_005502.4(ABCA1):c.*1767G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310427[alleleid]",
        "alleleId": 310427,
        "preferredName": "NM_005502.4(ABCA1):c.*1767G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364343",
        "RCV": [
          "RCV000311005",
          "RCV000356434"
        ],
        "variationId": 364343
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.107544829C>A?assembly=hg19",
        "id": "chr9:g.107544829C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104782548C>A?assembly=hg38",
        "id": "chr9:g.104782548C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/547281385",
        "rs": 547281385
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-107544829-C-A?dataset=gnomad_r2_1",
        "id": "9-107544829-C-A",
        "variant": "9:107544829 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104782548-C-A?dataset=gnomad_r3",
        "id": "9-104782548-C-A",
        "variant": "9:104782548 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104782548-C-A?dataset=gnomad_r4",
        "id": "9-104782548-C-A",
        "variant": "9:104782548 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 104782548,
          "referenceAllele": "C",
          "start": 104782547
        }
      ],
      "hgvs": [
        "NC_000009.12:g.104782548C>A",
        "CM000671.2:g.104782548C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 107544829,
          "referenceAllele": "C",
          "start": 107544828
        }
      ],
      "hgvs": [
        "NC_000009.11:g.107544829C>A",
        "CM000671.1:g.107544829C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 106584650,
          "referenceAllele": "C",
          "start": 106584649
        }
      ],
      "hgvs": [
        "NC_000009.10:g.106584650C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150608,
          "referenceAllele": "G",
          "start": 150607
        }
      ],
      "hgvs": [
        "NG_007981.1:g.150608G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000749"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8866,
          "referenceAllele": "G",
          "start": 8865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.8:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.*1767G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.*1767G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:n.*1767G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:n.*1767G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8872,
          "referenceAllele": "G",
          "start": 8871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000678995.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504612.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8948,
          "referenceAllele": "G",
          "start": 8947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "ENST00000374736.7:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363868.3:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8957,
          "referenceAllele": "G",
          "start": 8956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8872,
          "referenceAllele": "G",
          "start": 8871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8712,
          "referenceAllele": "G",
          "start": 8711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8947,
          "referenceAllele": "G",
          "start": 8946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8943,
          "referenceAllele": "G",
          "start": 8942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8941,
          "referenceAllele": "G",
          "start": 8940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8650,
          "referenceAllele": "G",
          "start": 8649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8872,
          "referenceAllele": "G",
          "start": 8871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251773.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251830.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8712,
          "referenceAllele": "G",
          "start": 8711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_005251776.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251833.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8947,
          "referenceAllele": "G",
          "start": 8946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518339.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516641.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "G",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518340.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516642.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8941,
          "referenceAllele": "G",
          "start": 8940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518341.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516643.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8649,
          "referenceAllele": "G",
          "start": 8648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_011518342.3:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516644.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9146,
          "referenceAllele": "G",
          "start": 9145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014378.2:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869867.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9553,
          "referenceAllele": "G",
          "start": 9552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014379.2:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869868.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8879,
          "referenceAllele": "G",
          "start": 8878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014380.2:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869869.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8945,
          "referenceAllele": "G",
          "start": 8944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014381.2:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869870.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9410,
          "referenceAllele": "G",
          "start": 9409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XM_017014382.2:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869871.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8866,
          "referenceAllele": "G",
          "start": 8865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.*1767G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.*1767G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:n.*1767G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:n.*1767G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}