{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118130",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21374[alleleid]",
        "alleleId": 21374,
        "preferredName": "NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6335",
        "RCV": [
          "RCV000006707",
          "RCV000256312",
          "RCV000291508",
          "RCV001376556",
          "RCV003914816"
        ],
        "variationId": 6335
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-133346260-T-C",
        "id": "9-133346260-T-C",
        "variant": "9:133346260 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133346260T>C?assembly=hg19",
        "id": "chr9:g.133346260T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130470873T>C?assembly=hg38",
        "id": "chr9:g.130470873T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908646",
        "rs": 121908646
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133346260-T-C?dataset=gnomad_r2_1",
        "id": "9-133346260-T-C",
        "variant": "9:133346260 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130470873-T-C?dataset=gnomad_r3",
        "id": "9-130470873-T-C",
        "variant": "9:130470873 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130470873-T-C?dataset=gnomad_r4",
        "id": "9-130470873-T-C",
        "variant": "9:130470873 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130470873,
          "referenceAllele": "T",
          "start": 130470872
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130470873T>C",
        "CM000671.2:g.130470873T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133346260,
          "referenceAllele": "T",
          "start": 133346259
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133346260T>C",
        "CM000671.1:g.133346260T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132336081,
          "referenceAllele": "T",
          "start": 132336080
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132336081T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31167,
          "referenceAllele": "T",
          "start": 31166
        }
      ],
      "hgvs": [
        "NG_011542.1:g.31167T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Trp179Arg",
        "hgvsWellDefined": "ENSP00000253004.6:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.535T>C"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.535T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Trp179Arg"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Trp179Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "T",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Trp179Arg",
        "hgvsWellDefined": "ENSP00000253004.6:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "T",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Trp179Arg",
        "hgvsWellDefined": "ENSP00000361469.2:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "referenceAllele": "T",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Trp179Arg",
        "hgvsWellDefined": "ENSP00000361471.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000422569.5:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394212.1:p.Trp179Arg",
        "hgvsWellDefined": "ENSP00000394212.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "T",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000443588.1:c.478T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397785.1:p.Trp160Arg",
        "hgvsWellDefined": "ENSP00000397785.1:p.Trp160Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000467695.5:n.244T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "T",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000493984.6:n.366T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091764",
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Trp179Arg",
        "hgvsWellDefined": "NP_000041.2:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052904",
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "T",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Trp179Arg",
        "hgvsWellDefined": "NP_446464.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Trp179Arg",
        "hgvsWellDefined": "XP_005272257.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.649T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Trp217Arg",
        "hgvsWellDefined": "XP_011517007.1:p.Trp217Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Trp179Arg",
        "hgvsWellDefined": "XP_005272257.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.649T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Trp217Arg",
        "hgvsWellDefined": "XP_011517007.1:p.Trp217Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "T",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.631T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Trp211Arg",
        "hgvsWellDefined": "XP_016870218.1:p.Trp211Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052904",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.535T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Trp179Arg",
        "hgvsWellDefined": "NP_446464.1:p.Trp179Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.535T>C"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.535T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Trp179Arg"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Trp179Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}