{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367645418",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.839G>A (p.Gly280Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415108[alleleid]",
        "alleleId": 415108,
        "preferredName": "NM_000048.4(ASL):c.839G>A (p.Gly280Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427091",
        "RCV": [
          "RCV000489046",
          "RCV000669138"
        ],
        "variationId": 427091
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65554083G>A?assembly=hg19",
        "id": "chr7:g.65554083G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66089096G>A?assembly=hg38",
        "id": "chr7:g.66089096G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307952",
        "rs": 1085307952
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66089096-G-A?dataset=gnomad_r3",
        "id": "7-66089096-G-A",
        "variant": "7:66089096 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66089096-G-A?dataset=gnomad_r4",
        "id": "7-66089096-G-A",
        "variant": "7:66089096 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66089096,
          "referenceAllele": "G",
          "start": 66089095
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66089096G>A",
        "CM000669.2:g.66089096G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65554083,
          "referenceAllele": "G",
          "start": 65554082
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65554083G>A",
        "CM000669.1:g.65554083G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65191518,
          "referenceAllele": "G",
          "start": 65191517
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65191518G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18308,
          "referenceAllele": "G",
          "start": 18307
        }
      ],
      "hgvs": [
        "NG_009288.1:g.18308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000307188.9:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.839G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.839G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gly280Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gly280Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Gly215Glu",
        "hgvsWellDefined": "ENSP00000354710.6:p.Gly215Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gly254Glu",
        "hgvsWellDefined": "ENSP00000370219.4:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000378740.3:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000378741.3:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8,
          "referenceAllele": "G",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.2:c.8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500864.1:p.Gly3Glu",
        "hgvsWellDefined": "ENSP00000500864.1:p.Gly3Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "referenceAllele": "G",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Gly254Glu",
        "hgvsWellDefined": "ENSP00000500462.1:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*138G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.1598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.1863G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.651G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.2956G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "G",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Gly254Glu",
        "hgvsWellDefined": "ENSP00000499889.1:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000307188.9:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:p.Gly215Glu",
        "hgvsWellDefined": "ENSP00000354710.5:p.Gly215Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gly254Glu",
        "hgvsWellDefined": "ENSP00000370219.4:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000378740.3:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gly280Glu",
        "hgvsWellDefined": "ENSP00000378741.3:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.152G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:p.Gly51Glu",
        "hgvsWellDefined": "ENSP00000396527.2:p.Gly51Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8,
          "referenceAllele": "G",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.1:n.8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.220G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483265",
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gly280Glu",
        "hgvsWellDefined": "NP_000039.2:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gly280Glu",
        "hgvsWellDefined": "NP_001020114.1:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957107",
      "coordinates": [
        {
          "allele": "A",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gly280Glu",
        "hgvsWellDefined": "NP_001020115.1:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338823",
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "referenceAllele": "G",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gly254Glu",
        "hgvsWellDefined": "NP_001020117.1:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483265",
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gly280Glu",
        "hgvsWellDefined": "NP_000039.2:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.839G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.839G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gly280Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gly280Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831399",
      "coordinates": [
        {
          "allele": "A",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gly280Glu",
        "hgvsWellDefined": "NP_001020114.1:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957107",
      "coordinates": [
        {
          "allele": "A",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.839G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gly280Glu",
        "hgvsWellDefined": "NP_001020115.1:p.Gly280Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338823",
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gly254Glu",
        "hgvsWellDefined": "NP_001020117.1:p.Gly254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}