{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1616534948",
  "communityStandardTitle": [
    "NM_001080.3(ALDH5A1):c.1234C= (p.Arg412=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203983",
        "rs": 118203983
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24528057,
          "referenceAllele": "C",
          "start": 24528056
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24528057C=",
        "CM000668.2:g.24528057C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24528285,
          "referenceAllele": "C",
          "start": 24528284
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24528285C=",
        "CM000668.1:g.24528285C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24636264,
          "referenceAllele": "C",
          "start": 24636263
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24636264C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38089,
          "referenceAllele": "C",
          "start": 38088
        }
      ],
      "hgvs": [
        "NG_008161.1:g.38089C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000907"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000357578.8:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350191.3:p.Arg412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357578.8:c.1234C="
          },
          "RefSeq": {
            "hgvs": "NM_001080.3:c.1234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350191.3:p.Arg412="
          },
          "RefSeq": {
            "hgvs": "NP_001071.1:p.Arg412="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000479394.2:n.349C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000672352.1:c.853C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500876.1:p.Arg285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000672652.1:c.1197C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000348925.2:c.1273C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314649.3:p.Arg425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000357578.7:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350191.3:p.Arg412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000479394.1:n.349C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000491546.5:c.1150C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417687.1:p.Arg384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072149589",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_001080.3:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001071.1:p.Arg412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357578.8:c.1234C="
          },
          "RefSeq": {
            "hgvs": "NM_001080.3:c.1234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350191.3:p.Arg412="
          },
          "RefSeq": {
            "hgvs": "NP_001071.1:p.Arg412="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_170740.1:c.1273C="
      ],
      "proteinEffect": {
        "hgvs": "NP_733936.1:p.Arg425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042585"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_001368954.1:c.1090C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355883.1:p.Arg364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691493"
    }
  ],
  "type": "nucleotide"
}