{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368047118",
  "communityStandardTitle": [
    "NM_001348946.2(ABCB1):c.2995G>T (p.Ala999Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87145914C>A?assembly=hg19",
        "id": "chr7:g.87145914C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87516598C>A?assembly=hg38",
        "id": "chr7:g.87516598C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552784",
        "rs": 72552784
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87516598-C-A?dataset=gnomad_r4",
        "id": "7-87516598-C-A",
        "variant": "7:87516598 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87516598,
          "referenceAllele": "C",
          "start": 87516597
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87516598C>A",
        "CM000669.2:g.87516598C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 87145914,
          "referenceAllele": "C",
          "start": 87145913
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87145914C>A",
        "CM000669.1:g.87145914C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 86983850,
          "referenceAllele": "C",
          "start": 86983849
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86983850C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201651,
          "referenceAllele": "G",
          "start": 201650
        }
      ],
      "hgvs": [
        "NG_011513.1:g.201651G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001780"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.8:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:p.Ala999Ser",
        "hgvsWellDefined": "ENSP00000265724.3:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.5:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:p.Ala999Ser",
        "hgvsWellDefined": "ENSP00000478255.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.2995G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.2995G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:p.Ala999Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:p.Ala999Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3413,
          "referenceAllele": "G",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000265724.7:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265724.3:p.Ala999Ser",
        "hgvsWellDefined": "ENSP00000265724.3:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000475929.5:n.151G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000483831.1:n.553G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000488737.6:n.637G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000496821.5:n.623G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3296,
          "referenceAllele": "G",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000543898.5:c.2803G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444095.1:p.Ala935Ser",
        "hgvsWellDefined": "ENSP00000444095.1:p.Ala935Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3320,
          "referenceAllele": "G",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "ENST00000622132.4:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478255.1:p.Ala999Ser",
        "hgvsWellDefined": "ENSP00000478255.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453274",
      "coordinates": [
        {
          "allele": "T",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.4:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:p.Ala999Ser",
        "hgvsWellDefined": "NP_000918.2:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3341,
          "referenceAllele": "G",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.1:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:p.Ala999Ser",
        "hgvsWellDefined": "NP_001335873.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3540,
          "referenceAllele": "G",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.1:c.3205G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:p.Ala1069Ser",
        "hgvsWellDefined": "NP_001335874.1:p.Ala1069Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3135,
          "referenceAllele": "G",
          "start": 3134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.1:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:p.Ala999Ser",
        "hgvsWellDefined": "NP_001335875.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348946.2:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335875.1:p.Ala999Ser",
        "hgvsWellDefined": "NP_001335875.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000622132.5:c.2995G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001348946.2:c.2995G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478255.1:p.Ala999Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001335875.1:p.Ala999Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453274",
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "G",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_000927.5:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000918.2:p.Ala999Ser",
        "hgvsWellDefined": "NP_000918.2:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3313,
          "referenceAllele": "G",
          "start": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348944.2:c.2995G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335873.1:p.Ala999Ser",
        "hgvsWellDefined": "NP_001335873.1:p.Ala999Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3512,
          "referenceAllele": "G",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000040",
      "geneNCBI_id": 5243,
      "geneSymbol": "ABCB1",
      "hgvs": [
        "NM_001348945.2:c.3205G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335874.1:p.Ala1069Ser",
        "hgvsWellDefined": "NP_001335874.1:p.Ala1069Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719201"
    }
  ],
  "type": "nucleotide"
}