{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360721594",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1867789[alleleid]",
        "alleleId": 1867789,
        "preferredName": "NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136322",
        "RCV": [
          "RCV003037114"
        ],
        "variationId": 2136322
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125885930C>T?assembly=hg19",
        "id": "chr5:g.125885930C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126550238C>T?assembly=hg38",
        "id": "chr5:g.126550238C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2480252690",
        "rs": 2480252690
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126550238,
          "referenceAllele": "C",
          "start": 126550237
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126550238C>T",
        "CM000667.2:g.126550238C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125885930,
          "referenceAllele": "C",
          "start": 125885929
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125885930C>T",
        "CM000667.1:g.125885930C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125913829,
          "referenceAllele": "C",
          "start": 125913828
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125913829C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50153,
          "referenceAllele": "G",
          "start": 50152
        }
      ],
      "hgvs": [
        "NG_008600.2:g.50153G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50153,
          "referenceAllele": "G",
          "start": 50152
        }
      ],
      "hgvs": [
        "NG_008600.3:g.50153G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1373G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ser458Asn",
        "hgvsWellDefined": "ENSP00000387123.3:p.Ser458Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1373G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1373G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ser458Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ser458Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "referenceAllele": "G",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1282G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1282G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1371G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1317G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1317G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1091G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.860G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Ser418Asn",
        "hgvsWellDefined": "ENSP00000489725.1:p.Ser418Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1182G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1533G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1533G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Ser473Asn",
        "hgvsWellDefined": "ENSP00000490811.1:p.Ser473Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Ser391Asn",
        "hgvsWellDefined": "ENSP00000490371.1:p.Ser391Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Ser398Asn",
        "hgvsWellDefined": "ENSP00000489895.1:p.Ser398Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Ser455Asn",
        "hgvsWellDefined": "ENSP00000489686.1:p.Ser455Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.829G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1373G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Ser458Asn",
        "hgvsWellDefined": "ENSP00000490024.1:p.Ser458Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1482,
          "referenceAllele": "G",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1217G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1319G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1373G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ser458Asn",
        "hgvsWellDefined": "ENSP00000387123.3:p.Ser458Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1262G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Ser421Asn",
        "hgvsWellDefined": "ENSP00000414132.2:p.Ser421Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000476328.1:n.138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1583G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1319,
          "referenceAllele": "G",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Ser394Asn",
        "hgvsWellDefined": "ENSP00000448593.1:p.Ser394Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1373G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ser458Asn",
        "hgvsWellDefined": "NP_001173.2:p.Ser458Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253512",
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1289G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ser430Asn",
        "hgvsWellDefined": "NP_001188306.1:p.Ser430Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1262G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Ser421Asn",
        "hgvsWellDefined": "NP_001189333.1:p.Ser421Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.968G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ser323Asn",
        "hgvsWellDefined": "XP_011541719.1:p.Ser323Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.968G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ser323Asn",
        "hgvsWellDefined": "XP_011541719.1:p.Ser323Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1373G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ser458Asn",
        "hgvsWellDefined": "NP_001173.2:p.Ser458Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1373G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1373G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ser458Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ser458Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253512",
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1289G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ser430Asn",
        "hgvsWellDefined": "NP_001188306.1:p.Ser430Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Ser394Asn",
        "hgvsWellDefined": "NP_001189333.2:p.Ser394Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}