{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360721136",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1867788[alleleid]",
        "alleleId": 1867788,
        "preferredName": "NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136321",
        "RCV": [
          "RCV003037113"
        ],
        "variationId": 2136321
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125885678A>T?assembly=hg19",
        "id": "chr5:g.125885678A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126549986A>T?assembly=hg38",
        "id": "chr5:g.126549986A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1201473032",
        "rs": 1201473032
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126549986-A-T?dataset=gnomad_r3",
        "id": "5-126549986-A-T",
        "variant": "5:126549986 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126549986-A-T?dataset=gnomad_r4",
        "id": "5-126549986-A-T",
        "variant": "5:126549986 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126549986,
          "referenceAllele": "A",
          "start": 126549985
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126549986A>T",
        "CM000667.2:g.126549986A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125885678,
          "referenceAllele": "A",
          "start": 125885677
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125885678A>T",
        "CM000667.1:g.125885678A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125913577,
          "referenceAllele": "A",
          "start": 125913576
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125913577A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50405,
          "referenceAllele": "T",
          "start": 50404
        }
      ],
      "hgvs": [
        "NG_008600.2:g.50405T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50405,
          "referenceAllele": "T",
          "start": 50404
        }
      ],
      "hgvs": [
        "NG_008600.3:g.50405T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000387123.3:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1432T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1432T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Cys478Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Cys478Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1669,
          "referenceAllele": "T",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1341T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1341T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.7:n.179T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "T",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1859T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "T",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1430T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1327T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "T",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1376T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1376T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "T",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1197T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "T",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.966T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "T",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1312T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Cys438Ser",
        "hgvsWellDefined": "ENSP00000489725.1:p.Cys438Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "T",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1241T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1241T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "T",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1592T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1592T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1477T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Cys493Ser",
        "hgvsWellDefined": "ENSP00000490811.1:p.Cys493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1231T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Cys411Ser",
        "hgvsWellDefined": "ENSP00000490371.1:p.Cys411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1252T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Cys418Ser",
        "hgvsWellDefined": "ENSP00000489895.1:p.Cys418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "T",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1423T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Cys475Ser",
        "hgvsWellDefined": "ENSP00000489686.1:p.Cys475Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "T",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.888T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000490024.1:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "T",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1276T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1276T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "T",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1378T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000387123.3:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1321T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Cys441Ser",
        "hgvsWellDefined": "ENSP00000414132.2:p.Cys441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "T",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000476328.1:n.390T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.6:n.179T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "T",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1642T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "T",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1240T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Cys414Ser",
        "hgvsWellDefined": "ENSP00000448593.1:p.Cys414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151429",
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "referenceAllele": "T",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Cys478Ser",
        "hgvsWellDefined": "NP_001173.2:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253530",
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "referenceAllele": "T",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1348T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Cys450Ser",
        "hgvsWellDefined": "NP_001188306.1:p.Cys450Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1321T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Cys441Ser",
        "hgvsWellDefined": "NP_001189333.1:p.Cys441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "T",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.1027T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Cys343Ser",
        "hgvsWellDefined": "XP_011541719.1:p.Cys343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "T",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.1027T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Cys343Ser",
        "hgvsWellDefined": "XP_011541719.1:p.Cys343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151429",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Cys478Ser",
        "hgvsWellDefined": "NP_001173.2:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1432T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1432T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Cys478Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Cys478Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253530",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1348T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Cys450Ser",
        "hgvsWellDefined": "NP_001188306.1:p.Cys450Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1240T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Cys414Ser",
        "hgvsWellDefined": "NP_001189333.2:p.Cys414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}