{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA313118",
  "communityStandardTitle": [
    "NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203862[alleleid]",
        "alleleId": 203862,
        "preferredName": "NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204800",
        "RCV": [
          "RCV000186695",
          "RCV000725224",
          "RCV001489163"
        ],
        "variationId": 204800
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-40760983-G-A",
        "id": "22-40760983-G-A",
        "variant": "22:40760983 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40760983G>A?assembly=hg19",
        "id": "chr22:g.40760983G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.40364979G>A?assembly=hg38",
        "id": "chr22:g.40364979G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200814886",
        "rs": 200814886
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40760983-G-A?dataset=gnomad_r2_1",
        "id": "22-40760983-G-A",
        "variant": "22:40760983 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40364979-G-A?dataset=gnomad_r3",
        "id": "22-40364979-G-A",
        "variant": "22:40364979 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-40364979-G-A?dataset=gnomad_r4",
        "id": "22-40364979-G-A",
        "variant": "22:40364979 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40364979,
          "referenceAllele": "G",
          "start": 40364978
        }
      ],
      "hgvs": [
        "NC_000022.11:g.40364979G>A",
        "CM000684.2:g.40364979G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 40760983,
          "referenceAllele": "G",
          "start": 40760982
        }
      ],
      "hgvs": [
        "NC_000022.10:g.40760983G>A",
        "CM000684.1:g.40760983G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 39090929,
          "referenceAllele": "G",
          "start": 39090928
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39090929G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23480,
          "referenceAllele": "G",
          "start": 23479
        }
      ],
      "hgvs": [
        "NG_007993.1:g.23480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23480,
          "referenceAllele": "G",
          "start": 23479
        }
      ],
      "hgvs": [
        "NG_007993.2:g.23480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000480775.3:c.*685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485462.2:n.*685G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623287.4:c.*716G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485437.1:n.*716G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623632.4:c.982G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485288.2:p.Ala328Thr",
        "hgvsWellDefined": "ENSP00000485288.2:p.Ala328Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.4:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485289.2:p.Ala445Thr",
        "hgvsWellDefined": "ENSP00000485289.2:p.Ala445Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636433.1:n.1313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000636714.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490946.1:p.Ala431Thr",
        "hgvsWellDefined": "ENSP00000490946.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637666.2:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489696.2:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000637669.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489728.1:p.Ala431Thr",
        "hgvsWellDefined": "ENSP00000489728.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "hgvs": [
        "ENST00000639722.1:c.*987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492828.1:n.*987G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000674592.1:n.2805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "G",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000675622.1:n.4358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679609.1:c.*901G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506592.1:n.*901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "referenceAllele": "G",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679656.1:n.1976G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679723.1:c.1246G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505155.1:p.Ala416Thr",
        "hgvsWellDefined": "ENSP00000505155.1:p.Ala416Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679845.1:n.1599G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000679904.1:n.1687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680378.1:c.1378G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505556.1:p.Ala460Thr",
        "hgvsWellDefined": "ENSP00000505556.1:p.Ala460Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "referenceAllele": "G",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680444.1:c.*654G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505298.1:n.*654G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000680978.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505244.1:p.Ala431Thr",
        "hgvsWellDefined": "ENSP00000505244.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681003.1:n.754G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2695,
          "referenceAllele": "G",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000681159.1:n.2695G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000216194.11:c.1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216194.8:p.Ala445Thr",
        "hgvsWellDefined": "ENSP00000216194.8:p.Ala445Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1247,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000342312.9:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341429.6:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000423176.6:c.18G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623063.3:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485525.1:p.Ala431Thr",
        "hgvsWellDefined": "ENSP00000485525.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Ala431Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Ala431Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000623387.1:n.422G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "referenceAllele": "G",
          "start": 21
        }
      ],
      "hgvs": [
        "ENST00000623869.3:c.22G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485211.1:p.Ala8Thr",
        "hgvsWellDefined": "ENSP00000485211.1:p.Ala8Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000624027.1:c.18G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "ENST00000625194.3:c.920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA313119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.2:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_000017.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.1:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529976.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528278.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_011528278.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_011528279.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529978.1:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528280.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529979.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528281.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_011528281.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.1:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529981.1:c.826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528283.1:p.Ala276Thr",
        "hgvsWellDefined": "XP_011528283.1:p.Ala276Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529982.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528284.1:p.Ala154Thr",
        "hgvsWellDefined": "XP_011528284.1:p.Ala154Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937824.1:n.1381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1281,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1281,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.1:n.1281+614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA313119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.3:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_000017.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.2:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.1:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001304852.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044525",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_001350769.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.1:n.1381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529977.3:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528279.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_011528279.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1248,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_011529980.3:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528282.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028636.1:c.1246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884125.1:p.Ala416Thr",
        "hgvsWellDefined": "XP_016884125.1:p.Ala416Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028637.1:c.1246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884126.1:p.Ala416Thr",
        "hgvsWellDefined": "XP_016884126.1:p.Ala416Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028638.1:c.826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884127.1:p.Ala276Thr",
        "hgvsWellDefined": "XP_016884127.1:p.Ala276Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028639.2:c.826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884128.1:p.Ala276Thr",
        "hgvsWellDefined": "XP_016884128.1:p.Ala276Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_017028640.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884129.1:p.Ala154Thr",
        "hgvsWellDefined": "XP_016884129.1:p.Ala154Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1187,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XM_024452166.1:c.1146+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307934.1:n.1146+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_001755176.2:n.1533G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_002958670.1:n.1318G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1279,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1279,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "XR_937825.3:n.1279+614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA313119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_000026.4:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000017.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_000017.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623063.3:c.1291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000026.4:c.1291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485525.1:p.Ala431Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000017.1:p.Ala431Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044525",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.2:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_001350769.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "endIntronDirection": "+",
          "endIntronOffset": 614,
          "referenceAllele": "G",
          "start": 1250,
          "startIntronDirection": "+",
          "startIntronOffset": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001123378.3:c.1191+614G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116850.1:n.1191+614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826972392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001317923.2:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304852.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001304852.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044525",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NM_001363840.3:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350769.1:p.Ala431Thr",
        "hgvsWellDefined": "NP_001350769.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NR_134256.2:n.1381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730851"
    }
  ],
  "type": "nucleotide"
}