{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1580455199",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.571A= (p.Ile191=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499755",
        "rs": 1060499755
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126577158,
          "referenceAllele": "T",
          "start": 126577157
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126577158T=",
        "CM000667.2:g.126577158T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125912850,
          "referenceAllele": "T",
          "start": 125912849
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125912850T=",
        "CM000667.1:g.125912850T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125940749,
          "referenceAllele": "T",
          "start": 125940748
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125940749T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23233,
          "referenceAllele": "A",
          "start": 23232
        }
      ],
      "hgvs": [
        "NG_008600.2:g.23233A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23233,
          "referenceAllele": "A",
          "start": 23232
        }
      ],
      "hgvs": [
        "NG_008600.3:g.23233A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.571A="
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.571A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ile191="
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ile191="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000412186.2:c.447A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414536.2:n.447A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.6:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "A",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*480A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*480A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "A",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.160A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.2:c.505A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.2:p.Ile169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.119A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1293,
          "referenceAllele": "A",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.6:n.1293A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "A",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.569A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "A",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.466A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*380A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*380A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.289A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "A",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.451A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Ile151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*380A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*380A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.731A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.616A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Ile206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397,
          "referenceAllele": "A",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.370A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Ile124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "A",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.224A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "A",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.517A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*513A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*513A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.5:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98,
          "referenceAllele": "A",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000433026.5:n.98A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.652A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Ile218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.5:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.731A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "referenceAllele": "A",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.160A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.119A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "A",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000510111.6:c.484A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447388.1:p.Ile162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.5:n.402A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "A",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826115369",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253251",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.487A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ile163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.652A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Ile218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.166A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ile56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.166A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ile56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826115369",
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.571A="
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.571A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Ile191="
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Ile191="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253251",
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.487A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Ile163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257507",
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.571A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Ile191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}