{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199055",
  "communityStandardTitle": [
    "NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=273942",
        "active": true,
        "id": "COSM273942"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186957[alleleid]",
        "alleleId": 186957,
        "preferredName": "NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188768",
        "RCV": [
          "RCV000169091",
          "RCV000427449"
        ],
        "variationId": 188768
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-19559758-C-T",
        "id": "17-19559758-C-T",
        "variant": "17:19559758 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19559758C>T?assembly=hg19",
        "id": "chr17:g.19559758C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19656445C>T?assembly=hg38",
        "id": "chr17:g.19656445C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72547562",
        "rs": 72547562
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19559758-C-T?dataset=gnomad_r2_1",
        "id": "17-19559758-C-T",
        "variant": "17:19559758 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19656445-C-T?dataset=gnomad_r3",
        "id": "17-19656445-C-T",
        "variant": "17:19656445 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19656445-C-T?dataset=gnomad_r4",
        "id": "17-19656445-C-T",
        "variant": "17:19656445 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19656445,
          "referenceAllele": "C",
          "start": 19656444
        }
      ],
      "hgvs": [
        "NC_000017.11:g.19656445C>T",
        "CM000679.2:g.19656445C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19559758,
          "referenceAllele": "C",
          "start": 19559757
        }
      ],
      "hgvs": [
        "NC_000017.10:g.19559758C>T",
        "CM000679.1:g.19559758C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 19500350,
          "referenceAllele": "C",
          "start": 19500349
        }
      ],
      "hgvs": [
        "NC_000017.9:g.19500350C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12695,
          "referenceAllele": "C",
          "start": 12694
        }
      ],
      "hgvs": [
        "NG_007095.2:g.12695C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.11:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000176643.6:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.551C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.551C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Thr184Met"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Thr184Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 3813,
          "referenceAllele": "C",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.7:c.471+3813C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.3:n.471+3813C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.6:c.*109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.6:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.2:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000461916.2:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.6:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000464153.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671841.1:n.1060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000671878.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500516.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000500516.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672059.1:n.1002C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672322.1:n.1622C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672357.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500092.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000500092.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672465.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500517.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000500517.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672487.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500740.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000500740.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672564.1:n.772C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672567.1:c.442C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672608.1:n.1540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000672709.1:c.405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673136.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500380.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000500380.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000673472.1:n.887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000176643.10:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000176643.6:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000176643.6:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000339618.8:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345774.4:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000345774.4:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000395575.6:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378942.2:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000378942.2:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000472059.5:c.*109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458397.1:n.*109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000476965.5:n.301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44,
          "referenceAllele": "C",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000571537.1:c.44C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458942.1:p.Thr15Met",
        "hgvsWellDefined": "ENSP00000458942.1:p.Thr15Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000578614.1:c.*154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463128.1:n.*154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000579855.5:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463637.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000463637.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000581518.5:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461916.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000461916.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000582991.5:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464153.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000464153.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000630662.2:c.-431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487353.1:n.-431C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "ENST00000631291.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486085.1:p.Thr184Met",
        "hgvsWellDefined": "ENSP00000486085.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102743",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Thr184Met",
        "hgvsWellDefined": "NP_000373.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356069",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001026976.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523732.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522034.1:p.Thr184Met",
        "hgvsWellDefined": "XP_011522034.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Thr184Met",
        "hgvsWellDefined": "XP_011522035.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_011523733.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522035.1:p.Thr184Met",
        "hgvsWellDefined": "XP_011522035.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024355.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879844.1:p.Thr184Met",
        "hgvsWellDefined": "XP_016879844.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024356.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879845.1:p.Thr184Met",
        "hgvsWellDefined": "XP_016879845.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024357.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879846.1:p.Thr184Met",
        "hgvsWellDefined": "XP_016879846.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_017024358.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879847.1:p.Thr184Met",
        "hgvsWellDefined": "XP_016879847.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450651.1:c.-29C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306419.1:n.-29C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "XM_024450652.1:c.-29C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306420.1:n.-29C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102743",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_000382.3:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000373.1:p.Thr184Met",
        "hgvsWellDefined": "NP_000373.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000176643.11:c.551C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000382.3:c.551C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000176643.6:p.Thr184Met"
          },
          "RefSeq": {
            "hgvs": "NP_000373.1:p.Thr184Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825356069",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001031806.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026976.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001026976.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828312863",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369136.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356065.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356065.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313172",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356066.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313481",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356067.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313792",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369139.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356068.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356068.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047522",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.1:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356075.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.1:c.-29C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:n.-29C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313172",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369137.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356066.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356066.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828313481",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369138.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356067.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356067.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047522",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369146.2:c.551C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356075.1:p.Thr184Met",
        "hgvsWellDefined": "NP_001356075.1:p.Thr184Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000403",
      "geneNCBI_id": 224,
      "geneSymbol": "ALDH3A2",
      "hgvs": [
        "NM_001369148.2:c.-29C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356077.1:n.-29C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721140"
    }
  ],
  "type": "nucleotide"
}