{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041815",
  "communityStandardTitle": [
    "NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358405[alleleid]",
        "alleleId": 358405,
        "preferredName": "NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371221",
        "RCV": [
          "RCV000410901",
          "RCV001216194"
        ],
        "variationId": 371221
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19566799C>T?assembly=hg19",
        "id": "chr17:g.19566799C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19663486C>T?assembly=hg38",
        "id": "chr17:g.19663486C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72547573",
        "rs": 72547573
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19663486-C-T?dataset=gnomad_r3",
        "id": "17-19663486-C-T",
        "variant": "17:19663486 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19663486-C-T?dataset=gnomad_r4",
        "id": "17-19663486-C-T",
        "variant": "17:19663486 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19663486,
          "referenceAllele": "C",
          "start": 19663485
        }
      ],
      "hgvs": [
        "NC_000017.11:g.19663486C>T",
        "CM000679.2:g.19663486C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19566799,
          "referenceAllele": "C",
          "start": 19566798
        }
      ],
      "hgvs": [
        "NC_000017.10:g.19566799C>T",
        "CM000679.1:g.19566799C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19507391,
          "referenceAllele": "C",
          "start": 19507390
        }
      ],
      "hgvs": [
        "NC_000017.9:g.19507391C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19736,
          "referenceAllele": "C",
          "start": 19735
        }
      ],
      "hgvs": [
        "NG_007095.2:g.19736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.11:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000176643.6:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.1094C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.1094C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Ser365Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Ser365Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.7:c.767C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.3:p.Ser256Leu",
        "hgvsWellDefined": "ENSP00000378942.3:p.Ser256Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.6:c.*652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*652C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000571163.2:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459977.2:p.Ser38Leu",
        "hgvsWellDefined": "ENSP00000459977.2:p.Ser38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000574078.3:n.423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.6:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.2:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000461916.2:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.6:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000464153.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671878.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500516.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000500516.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672059.1:n.1545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672357.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500092.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000500092.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672465.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500517.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000500517.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672487.1:c.*274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500740.1:n.*274C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672564.1:n.1315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672567.1:c.985C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672591.1:c.154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672608.1:n.2083C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672709.1:c.948C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673064.1:n.1594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673136.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500380.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000500380.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "referenceAllele": "C",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673472.1:n.1430C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673516.1:n.1554C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.10:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000176643.6:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000339618.8:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345774.4:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000345774.4:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.6:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.2:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000378942.2:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.5:c.*652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*652C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000476965.5:n.844C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000571163.1:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459977.1:p.Ser38Leu",
        "hgvsWellDefined": "ENSP00000459977.1:p.Ser38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101,
          "referenceAllele": "C",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000573947.1:c.101C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462933.1:p.Ser34Leu",
        "hgvsWellDefined": "ENSP00000462933.1:p.Ser34Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000574078.2:n.423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000579855.5:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463637.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000463637.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.5:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000461916.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.5:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000464153.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000630662.2:c.113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487353.1:p.Ser38Leu",
        "hgvsWellDefined": "ENSP00000487353.1:p.Ser38Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000631291.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486085.1:p.Ser365Leu",
        "hgvsWellDefined": "ENSP00000486085.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_000373.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001026976.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523732.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522034.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_011522034.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_011522035.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_011522035.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024355.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879844.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_016879844.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024356.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879845.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_016879845.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024357.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879846.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_016879846.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024358.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879847.1:p.Ser365Leu",
        "hgvsWellDefined": "XP_016879847.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450651.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306419.1:p.Ser172Leu",
        "hgvsWellDefined": "XP_024306419.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450652.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306420.1:p.Ser172Leu",
        "hgvsWellDefined": "XP_024306420.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102712",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.3:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_000373.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.1094C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.1094C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Ser365Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Ser365Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001026976.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828312992",
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369136.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356065.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356065.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356066.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313610",
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356067.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313921",
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369139.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356068.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356068.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047537",
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.1:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356075.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828314333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "C",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.1:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Ser172Leu",
        "hgvsWellDefined": "NP_001356077.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356066.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313610",
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356067.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047537",
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.2:c.1094C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Ser365Leu",
        "hgvsWellDefined": "NP_001356075.1:p.Ser365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828314333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.2:c.515C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:p.Ser172Leu",
        "hgvsWellDefined": "NP_001356077.1:p.Ser172Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721140"
    }
  ],
  "type": "nucleotide"
}