{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312337",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200161[alleleid]",
        "alleleId": 200161,
        "preferredName": "NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203621",
        "RCV": [
          "RCV000669888"
        ],
        "variationId": 203621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65557801A>C?assembly=hg19",
        "id": "chr7:g.65557801A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66092814A>C?assembly=hg38",
        "id": "chr7:g.66092814A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554328459",
        "rs": 1554328459
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66092814-A-C?dataset=gnomad_r4",
        "id": "7-66092814-A-C",
        "variant": "7:66092814 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66092814,
          "referenceAllele": "A",
          "start": 66092813
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66092814A>C",
        "CM000669.2:g.66092814A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65557801,
          "referenceAllele": "A",
          "start": 65557800
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65557801A>C",
        "CM000669.1:g.65557801A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65195236,
          "referenceAllele": "A",
          "start": 65195235
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65195236A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22026,
          "referenceAllele": "A",
          "start": 22025
        }
      ],
      "hgvs": [
        "NG_009288.1:g.22026A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1378,
          "referenceAllele": "A",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Ser433Arg",
        "hgvsWellDefined": "ENSP00000307188.9:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1297A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1297A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Ser433Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Ser433Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "A",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.1102A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Ser368Arg",
        "hgvsWellDefined": "ENSP00000354710.6:p.Ser368Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.1219A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Ser407Arg",
        "hgvsWellDefined": "ENSP00000370219.4:p.Ser407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "referenceAllele": "A",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Ser413Arg",
        "hgvsWellDefined": "ENSP00000378740.3:p.Ser413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "referenceAllele": "A",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Ser433Arg",
        "hgvsWellDefined": "ENSP00000378741.3:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 89,
          "referenceAllele": "A",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.2:c.148-90A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500864.1:n.148-90A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "A",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*700A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*700A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.2056A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2321,
          "referenceAllele": "A",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.2321A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.1109A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3414,
          "referenceAllele": "A",
          "start": 3413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.3414A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "A",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.1219A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Ser407Arg",
        "hgvsWellDefined": "ENSP00000499889.1:p.Ser407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "A",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Ser433Arg",
        "hgvsWellDefined": "ENSP00000307188.9:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.1219A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Ser407Arg",
        "hgvsWellDefined": "ENSP00000370219.4:p.Ser407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Ser413Arg",
        "hgvsWellDefined": "ENSP00000378740.3:p.Ser413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Ser433Arg",
        "hgvsWellDefined": "ENSP00000378741.3:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 151,
          "referenceAllele": "A",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 150
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.563+151A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:n.563+151A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "A",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000464970.1:n.500A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 89,
          "referenceAllele": "A",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.1:n.148-90A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.778A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091676",
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "A",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Ser433Arg",
        "hgvsWellDefined": "NP_000039.2:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831409",
      "coordinates": [
        {
          "allele": "C",
          "end": 1532,
          "referenceAllele": "A",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Ser433Arg",
        "hgvsWellDefined": "NP_001020114.1:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "referenceAllele": "A",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Ser413Arg",
        "hgvsWellDefined": "NP_001020115.1:p.Ser413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338961",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.1219A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Ser407Arg",
        "hgvsWellDefined": "NP_001020117.1:p.Ser407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091676",
      "coordinates": [
        {
          "allele": "C",
          "end": 1378,
          "referenceAllele": "A",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Ser433Arg",
        "hgvsWellDefined": "NP_000039.2:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1297A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1297A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Ser433Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Ser433Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831409",
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "referenceAllele": "A",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.1297A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Ser433Arg",
        "hgvsWellDefined": "NP_001020114.1:p.Ser433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338642",
      "coordinates": [
        {
          "allele": "C",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Ser413Arg",
        "hgvsWellDefined": "NP_001020115.1:p.Ser413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338961",
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "A",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.1219A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Ser407Arg",
        "hgvsWellDefined": "NP_001020117.1:p.Ser407Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}