{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367645177",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.760A>C (p.Ser254Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65553835A>C?assembly=hg19",
        "id": "chr7:g.65553835A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66088848A>C?assembly=hg38",
        "id": "chr7:g.66088848A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66088848,
          "referenceAllele": "A",
          "start": 66088847
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66088848A>C",
        "CM000669.2:g.66088848A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65553835,
          "referenceAllele": "A",
          "start": 65553834
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65553835A>C",
        "CM000669.1:g.65553835A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65191270,
          "referenceAllele": "A",
          "start": 65191269
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65191270A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18060,
          "referenceAllele": "A",
          "start": 18059
        }
      ],
      "hgvs": [
        "NG_009288.1:g.18060A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000307188.9:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.760A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.760A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Ser254Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Ser254Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.565A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Ser189Arg",
        "hgvsWellDefined": "ENSP00000354710.6:p.Ser189Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "A",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Ser228Arg",
        "hgvsWellDefined": "ENSP00000370219.4:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000378740.3:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000378741.3:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "A",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Ser228Arg",
        "hgvsWellDefined": "ENSP00000500462.1:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "A",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*59A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*59A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "A",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.1519A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1784,
          "referenceAllele": "A",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.1784A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.572A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2877,
          "referenceAllele": "A",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.2877A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "A",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Ser228Arg",
        "hgvsWellDefined": "ENSP00000499889.1:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000307188.9:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.565A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:p.Ser189Arg",
        "hgvsWellDefined": "ENSP00000354710.5:p.Ser189Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Ser228Arg",
        "hgvsWellDefined": "ENSP00000370219.4:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000378740.3:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Ser254Arg",
        "hgvsWellDefined": "ENSP00000378741.3:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "A",
          "start": 72
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.73A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:p.Ser25Arg",
        "hgvsWellDefined": "ENSP00000396527.2:p.Ser25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "referenceAllele": "A",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.141A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA357218",
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "A",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Ser254Arg",
        "hgvsWellDefined": "NP_000039.2:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338211",
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "A",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Ser254Arg",
        "hgvsWellDefined": "NP_001020114.1:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957104",
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "A",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Ser254Arg",
        "hgvsWellDefined": "NP_001020115.1:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338808",
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "A",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Ser228Arg",
        "hgvsWellDefined": "NP_001020117.1:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA357218",
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "A",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Ser254Arg",
        "hgvsWellDefined": "NP_000039.2:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.760A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.760A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Ser254Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Ser254Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338211",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Ser254Arg",
        "hgvsWellDefined": "NP_001020114.1:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957104",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "A",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Ser254Arg",
        "hgvsWellDefined": "NP_001020115.1:p.Ser254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338808",
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "A",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.682A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Ser228Arg",
        "hgvsWellDefined": "NP_001020117.1:p.Ser228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}