{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367650132",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.1080G>T (p.Met360Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65557010G>T?assembly=hg19",
        "id": "chr7:g.65557010G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66092023G>T?assembly=hg38",
        "id": "chr7:g.66092023G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 66092023,
          "referenceAllele": "G",
          "start": 66092022
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66092023G>T",
        "CM000669.2:g.66092023G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 65557010,
          "referenceAllele": "G",
          "start": 65557009
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65557010G>T",
        "CM000669.1:g.65557010G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 65194445,
          "referenceAllele": "G",
          "start": 65194444
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65194445G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21235,
          "referenceAllele": "G",
          "start": 21234
        }
      ],
      "hgvs": [
        "NG_009288.1:g.21235G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Met360Ile",
        "hgvsWellDefined": "ENSP00000307188.9:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1080G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1080G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Met360Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Met360Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.885G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Met295Ile",
        "hgvsWellDefined": "ENSP00000354710.6:p.Met295Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Met334Ile",
        "hgvsWellDefined": "ENSP00000370219.4:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Met340Ile",
        "hgvsWellDefined": "ENSP00000378740.3:p.Met340Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Met360Ile",
        "hgvsWellDefined": "ENSP00000378741.3:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 880,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.2:c.148-881G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500864.1:n.148-881G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Met334Ile",
        "hgvsWellDefined": "ENSP00000500462.1:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*379G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*379G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "G",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.1839G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2104,
          "referenceAllele": "G",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.2104G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.892G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3197,
          "referenceAllele": "G",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.3197G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Met334Ile",
        "hgvsWellDefined": "ENSP00000499889.1:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Met360Ile",
        "hgvsWellDefined": "ENSP00000307188.9:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Met334Ile",
        "hgvsWellDefined": "ENSP00000370219.4:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Met340Ile",
        "hgvsWellDefined": "ENSP00000378740.3:p.Met340Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Met360Ile",
        "hgvsWellDefined": "ENSP00000378741.3:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:p.Met131Ile",
        "hgvsWellDefined": "ENSP00000396527.2:p.Met131Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000464970.1:n.283G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 880,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.1:n.148-881G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.561G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028574",
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "G",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Met360Ile",
        "hgvsWellDefined": "NP_000039.2:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499235318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Met360Ile",
        "hgvsWellDefined": "NP_001020114.1:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338571",
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Met340Ile",
        "hgvsWellDefined": "NP_001020115.1:p.Met340Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338890",
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Met334Ile",
        "hgvsWellDefined": "NP_001020117.1:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028574",
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Met360Ile",
        "hgvsWellDefined": "NP_000039.2:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1080G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1080G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Met360Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Met360Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499235318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.1080G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Met360Ile",
        "hgvsWellDefined": "NP_001020114.1:p.Met360Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338571",
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Met340Ile",
        "hgvsWellDefined": "NP_001020115.1:p.Met340Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338890",
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.1002G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Met334Ile",
        "hgvsWellDefined": "NP_001020117.1:p.Met334Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}