{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115119",
  "communityStandardTitle": [
    "NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16682[alleleid]",
        "alleleId": 16682,
        "preferredName": "NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1643",
        "RCV": [
          "RCV000001710",
          "RCV000414702"
        ],
        "variationId": 1643
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-19561175-G-C",
        "id": "17-19561175-G-C",
        "variant": "17:19561175 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19561175G>C?assembly=hg19",
        "id": "chr17:g.19561175G>C"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19561175_19561181delinsCGTTTGT?assembly=hg19",
        "id": "chr17:g.19561175_19561181delinsCGTTTGT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19657862G>C?assembly=hg38",
        "id": "chr17:g.19657862G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72547569",
        "rs": 72547569
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19561175-G-C?dataset=gnomad_r2_1",
        "id": "17-19561175-G-C",
        "variant": "17:19561175 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19657862-G-C?dataset=gnomad_r3",
        "id": "17-19657862-G-C",
        "variant": "17:19657862 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19657862-G-C?dataset=gnomad_r4",
        "id": "17-19657862-G-C",
        "variant": "17:19657862 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19657862,
          "referenceAllele": "G",
          "start": 19657861
        }
      ],
      "hgvs": [
        "NC_000017.11:g.19657862G>C",
        "CM000679.2:g.19657862G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19561175,
          "referenceAllele": "G",
          "start": 19561174
        }
      ],
      "hgvs": [
        "NC_000017.10:g.19561175G>C",
        "CM000679.1:g.19561175G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19501767,
          "referenceAllele": "G",
          "start": 19501766
        }
      ],
      "hgvs": [
        "NC_000017.9:g.19501767G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14112,
          "referenceAllele": "G",
          "start": 14111
        }
      ],
      "hgvs": [
        "NG_007095.2:g.14112G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.11:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000176643.6:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.798G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.798G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Lys266Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Lys266Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "endIntronDirection": "-",
          "endIntronOffset": 3264,
          "referenceAllele": "G",
          "start": 657,
          "startIntronDirection": "-",
          "startIntronOffset": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.7:c.472-3265G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.3:n.472-3265G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.6:c.*356G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.6:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.2:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000461916.2:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "G",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.6:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000464153.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2477,
          "referenceAllele": "G",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671841.1:n.2477G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671878.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500516.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000500516.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672059.1:n.1249G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1869,
          "referenceAllele": "G",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672322.1:n.1869G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672357.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500092.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000500092.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672465.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500517.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000500517.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "endIntronDirection": "+",
          "endIntronOffset": 1288,
          "referenceAllele": "G",
          "start": 864,
          "startIntronDirection": "+",
          "startIntronOffset": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672487.1:c.680+1288G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500740.1:n.680+1288G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672564.1:n.1019G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672567.1:c.689G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1787,
          "referenceAllele": "G",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672608.1:n.1787G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672709.1:c.652G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673136.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500380.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000500380.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673472.1:n.1134G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.10:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000176643.6:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000339618.8:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345774.4:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000345774.4:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.6:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.2:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000378942.2:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.5:c.*356G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*356G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000476965.5:n.548G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000571537.1:c.291G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458942.1:p.Lys97Asn",
        "hgvsWellDefined": "ENSP00000458942.1:p.Lys97Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000578696.1:c.229G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000579855.5:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463637.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000463637.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.5:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000461916.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.5:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000464153.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000630662.2:c.-184G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487353.1:n.-184G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000631291.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486085.1:p.Lys266Asn",
        "hgvsWellDefined": "ENSP00000486085.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102647",
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_000373.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356231",
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001026976.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523732.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522034.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_011522034.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_011522035.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_011522035.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024355.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879844.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_016879844.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024356.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879845.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_016879845.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024357.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879846.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_016879846.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024358.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879847.1:p.Lys266Asn",
        "hgvsWellDefined": "XP_016879847.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450651.1:c.219G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306419.1:p.Lys73Asn",
        "hgvsWellDefined": "XP_024306419.1:p.Lys73Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450652.1:c.219G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306420.1:p.Lys73Asn",
        "hgvsWellDefined": "XP_024306420.1:p.Lys73Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102647",
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.3:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_000373.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.798G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.798G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Lys266Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Lys266Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356231",
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001026976.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828312921",
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369136.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356065.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356065.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313230",
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356066.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313539",
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356067.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313850",
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369139.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356068.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356068.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828314191",
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356075.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.1:c.219G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Lys73Asn",
        "hgvsWellDefined": "NP_001356077.1:p.Lys73Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313230",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356066.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313539",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356067.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828314191",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Lys266Asn",
        "hgvsWellDefined": "NP_001356075.1:p.Lys266Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.2:c.219G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Lys73Asn",
        "hgvsWellDefined": "NP_001356077.1:p.Lys73Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721140"
    }
  ],
  "type": "nucleotide"
}