{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362969979",
  "communityStandardTitle": [
    "NM_001080.3(ALDH5A1):c.612G>C (p.Trp204Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24505099G>C?assembly=hg19",
        "id": "chr6:g.24505099G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24504871G>C?assembly=hg38",
        "id": "chr6:g.24504871G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203982",
        "rs": 118203982
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24504871-G-C?dataset=gnomad_r4",
        "id": "6-24504871-G-C",
        "variant": "6:24504871 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24504871,
          "referenceAllele": "G",
          "start": 24504870
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24504871G>C",
        "CM000668.2:g.24504871G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24505099,
          "referenceAllele": "G",
          "start": 24505098
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24505099G>C",
        "CM000668.1:g.24505099G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24613078,
          "referenceAllele": "G",
          "start": 24613077
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24613078G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14903,
          "referenceAllele": "G",
          "start": 14902
        }
      ],
      "hgvs": [
        "NG_008161.1:g.14903G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000907"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000357578.8:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350191.3:p.Trp204Cys",
        "hgvsWellDefined": "ENSP00000350191.3:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357578.8:c.612G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080.3:c.612G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350191.3:p.Trp204Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001071.1:p.Trp204Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000672352.1:c.375G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500876.1:p.Trp125Cys",
        "hgvsWellDefined": "ENSP00000500876.1:p.Trp125Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000672557.1:c.530G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000672652.1:c.533G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000675422.1:n.1372G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000348925.2:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314649.3:p.Trp204Cys",
        "hgvsWellDefined": "ENSP00000314649.3:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000357578.7:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350191.3:p.Trp204Cys",
        "hgvsWellDefined": "ENSP00000350191.3:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "ENST00000491546.5:c.528G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417687.1:p.Trp176Cys",
        "hgvsWellDefined": "ENSP00000417687.1:p.Trp176Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072149585",
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_001080.3:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001071.1:p.Trp204Cys",
        "hgvsWellDefined": "NP_001071.1:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357578.8:c.612G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001080.3:c.612G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350191.3:p.Trp204Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001071.1:p.Trp204Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_170740.1:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733936.1:p.Trp204Cys",
        "hgvsWellDefined": "NP_733936.1:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042585"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NM_001368954.1:c.612G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355883.1:p.Trp204Cys",
        "hgvsWellDefined": "NP_001355883.1:p.Trp204Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691493"
    }
  ],
  "type": "nucleotide"
}