{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA749523127",
  "communityStandardTitle": [
    "NM_016818.3(ABCG1):c.*399A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43716901A>T?assembly=hg19",
        "id": "chr21:g.43716901A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42296791A>T?assembly=hg38",
        "id": "chr21:g.42296791A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1044317",
        "rs": 1044317
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42296791-A-T?dataset=gnomad_r3",
        "id": "21-42296791-A-T",
        "variant": "21:42296791 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42296791-A-T?dataset=gnomad_r4",
        "id": "21-42296791-A-T",
        "variant": "21:42296791 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42296791,
          "referenceAllele": "A",
          "start": 42296790
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42296791A>T",
        "CM000683.2:g.42296791A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43716901,
          "referenceAllele": "A",
          "start": 43716900
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43716901A>T",
        "CM000683.1:g.43716901A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42589970,
          "referenceAllele": "A",
          "start": 42589969
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42589970A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "A",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000398449.8:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381467.3:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398449.8:c.*399A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016818.3:c.*399A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381467.3:n.*399A>T"
          },
          "RefSeq": {
            "hgvs": "NP_058198.2:n.*399A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "A",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000343687.7:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339744.3:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000347800.6:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291524.4:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "A",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000361802.6:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354995.2:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3022,
          "referenceAllele": "A",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000398437.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381464.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2545,
          "referenceAllele": "A",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000398449.7:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381467.3:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "A",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000398457.6:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381475.2:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "A",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000462050.5:n.2584A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2450,
          "referenceAllele": "A",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "ENST00000472587.5:n.2450A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "A",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_004915.3:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004906.3:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2506,
          "referenceAllele": "A",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_016818.2:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_058198.2:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "A",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207174.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997057.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "A",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207627.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997510.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "A",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207628.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997511.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207629.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997512.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "A",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "XM_011529806.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528108.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "A",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "XM_011529807.1:c.*565A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528109.1:n.*565A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "A",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "XM_011529807.3:c.*565A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528109.1:n.*565A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2775,
          "referenceAllele": "A",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "XM_024452141.1:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307909.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2559,
          "referenceAllele": "A",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_004915.4:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004906.3:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "A",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_016818.3:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_058198.2:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398449.8:c.*399A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016818.3:c.*399A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381467.3:n.*399A>T"
          },
          "RefSeq": {
            "hgvs": "NP_058198.2:n.*399A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "A",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207627.2:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997510.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000073",
      "geneNCBI_id": 9619,
      "geneSymbol": "ABCG1",
      "hgvs": [
        "NM_207629.2:c.*399A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997512.1:n.*399A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730143"
    }
  ],
  "type": "nucleotide"
}