{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10576153",
  "communityStandardTitle": [
    "NM_000859.3(HMGCR):c.451-174A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227752[alleleid]",
        "alleleId": 227752,
        "preferredName": "NM_000859.3(HMGCR):c.451-174A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225958",
        "variationId": 225958
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.74642855A>T?assembly=hg19",
        "id": "chr5:g.74642855A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.75347030A>T?assembly=hg38",
        "id": "chr5:g.75347030A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17244841",
        "rs": 17244841
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-74642855-A-T?dataset=gnomad_r2_1",
        "id": "5-74642855-A-T",
        "variant": "5:74642855 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-75347030-A-T?dataset=gnomad_r3",
        "id": "5-75347030-A-T",
        "variant": "5:75347030 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-75347030-A-T?dataset=gnomad_r4",
        "id": "5-75347030-A-T",
        "variant": "5:75347030 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 75347030,
          "referenceAllele": "A",
          "start": 75347029
        }
      ],
      "hgvs": [
        "NC_000005.10:g.75347030A>T",
        "CM000667.2:g.75347030A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 74642855,
          "referenceAllele": "A",
          "start": 74642854
        }
      ],
      "hgvs": [
        "NC_000005.9:g.74642855A>T",
        "CM000667.1:g.74642855A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 74678611,
          "referenceAllele": "A",
          "start": 74678610
        }
      ],
      "hgvs": [
        "NC_000005.8:g.74678611A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14863,
          "referenceAllele": "A",
          "start": 14862
        }
      ],
      "hgvs": [
        "NG_011449.1:g.14863A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000287936.9:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287936.4:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287936.9:c.451-174A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000859.3:c.451-174A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287936.4:n.451-174A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000850.1:n.451-174A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 1287,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000679456.1:n.1288-174A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 574,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000680160.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505315.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000680940.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505561.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 901,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000681271.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505805.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000681410.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506232.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 1503,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000681567.1:c.*1000-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506708.1:n.*1000-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000287936.8:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287936.4:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 542,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000343975.9:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340816.5:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "ENST00000511206.5:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426745.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "NM_000859.2:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000850.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "NM_001130996.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124468.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "XM_011543357.1:c.511-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541659.1:n.511-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "XM_011543358.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541660.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "XM_011543359.1:c.511-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541661.1:n.511-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 516,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "NM_001364187.1:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351116.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "NM_000859.3:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000850.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662614",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287936.9:c.451-174A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000859.3:c.451-174A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287936.4:n.451-174A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000850.1:n.451-174A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005006",
      "geneNCBI_id": 3156,
      "geneSymbol": "HMGCR",
      "hgvs": [
        "NM_001130996.2:c.451-174A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124468.1:n.451-174A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712367"
    }
  ],
  "type": "nucleotide"
}