{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA455450358",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.486G>A (p.Gln162=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=898304[alleleid]",
        "alleleId": 898304,
        "preferredName": "NM_000048.4(ASL):c.486G>A (p.Gln162=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/909719",
        "RCV": [
          "RCV001160971"
        ],
        "variationId": 909719
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65551611G>A?assembly=hg19",
        "id": "chr7:g.65551611G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1786669549",
        "rs": 1786669549
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66086624-G-A?dataset=gnomad_r4",
        "id": "7-66086624-G-A",
        "variant": "7:66086624 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66086624,
          "referenceAllele": "G",
          "start": 66086623
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66086624G>A",
        "CM000669.2:g.66086624G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65551611,
          "referenceAllele": "G",
          "start": 65551610
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65551611G>A",
        "CM000669.1:g.65551611G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65189046,
          "referenceAllele": "G",
          "start": 65189045
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65189046G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15836,
          "referenceAllele": "G",
          "start": 15835
        }
      ],
      "hgvs": [
        "NG_009288.1:g.15836G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.486G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.486G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gln162="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gln162="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Gln97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 1104,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.447-1105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.447-1105G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.391G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673594.1:n.335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:p.Gln97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000487982.5:n.552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028342",
      "coordinates": [
        {
          "allele": "A",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338118",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338474",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338748",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028342",
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.486G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.486G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gln162="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gln162="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338118",
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338474",
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825338748",
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.486G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gln162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}