{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1746475168",
  "communityStandardTitle": [
    "NM_005989.4(AKR1D1):c.781C= (p.Arg261=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606650",
        "rs": 267606650
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 138107506,
          "referenceAllele": "C",
          "start": 138107505
        }
      ],
      "hgvs": [
        "NC_000007.14:g.138107506C=",
        "CM000669.2:g.138107506C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 137792252,
          "referenceAllele": "C",
          "start": 137792251
        }
      ],
      "hgvs": [
        "NC_000007.13:g.137792252C=",
        "CM000669.1:g.137792252C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 137442792,
          "referenceAllele": "C",
          "start": 137442791
        }
      ],
      "hgvs": [
        "NC_000007.12:g.137442792C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36075,
          "referenceAllele": "C",
          "start": 36074
        }
      ],
      "hgvs": [
        "NG_023342.1:g.36075C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003809"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "ENST00000242375.8:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242375.3:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242375.8:c.781C="
          },
          "RefSeq": {
            "hgvs": "NM_005989.4:c.781C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242375.3:p.Arg261="
          },
          "RefSeq": {
            "hgvs": "NP_005980.1:p.Arg261="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "ENST00000242375.7:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242375.3:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "ENST00000411726.6:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402374.2:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "ENST00000432161.5:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389197.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "ENST00000468877.2:n.804C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_001190906.1:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177835.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_001190907.1:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177836.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073473028",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_005989.3:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005980.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073473028",
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_005989.4:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005980.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242375.8:c.781C="
          },
          "RefSeq": {
            "hgvs": "NM_005989.4:c.781C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242375.3:p.Arg261="
          },
          "RefSeq": {
            "hgvs": "NP_005980.1:p.Arg261="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_001190906.2:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177835.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000388",
      "geneNCBI_id": 6718,
      "geneSymbol": "AKR1D1",
      "hgvs": [
        "NM_001190907.2:c.781C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177836.1:p.Arg261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679149"
    }
  ],
  "type": "nucleotide"
}