{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA455450293",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.436C>A (p.Arg146=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65548151C>A?assembly=hg19",
        "id": "chr7:g.65548151C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199938613",
        "rs": 199938613
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66083164-C-A?dataset=gnomad_r3",
        "id": "7-66083164-C-A",
        "variant": "7:66083164 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66083164-C-A?dataset=gnomad_r4",
        "id": "7-66083164-C-A",
        "variant": "7:66083164 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66083164,
          "referenceAllele": "C",
          "start": 66083163
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66083164C>A",
        "CM000669.2:g.66083164C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65548151,
          "referenceAllele": "C",
          "start": 65548150
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65548151C>A",
        "CM000669.1:g.65548151C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65185586,
          "referenceAllele": "C",
          "start": 65185585
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65185586C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12376,
          "referenceAllele": "C",
          "start": 12375
        }
      ],
      "hgvs": [
        "NG_009288.1:g.12376C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.436C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.436C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Arg146="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Arg146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.241C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.341C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.606C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "C",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.248C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.684C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673594.1:n.285C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "C",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.241C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000487982.5:n.502C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000496336.1:n.817C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073499957",
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073499957",
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.436C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.436C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Arg146="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Arg146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.436C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Arg146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}