{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253840",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21373[alleleid]",
        "alleleId": 21373,
        "preferredName": "NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6334",
        "RCV": [
          "RCV000006706",
          "RCV000436562",
          "RCV001273804",
          "RCV001705583"
        ],
        "variationId": 6334
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-133333936-G-T",
        "id": "9-133333936-G-T",
        "variant": "9:133333936 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133333936G>T?assembly=hg19",
        "id": "chr9:g.133333936G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130458549G>T?assembly=hg38",
        "id": "chr9:g.130458549G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35269064",
        "rs": 35269064
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133333936-G-T?dataset=gnomad_r2_1",
        "id": "9-133333936-G-T",
        "variant": "9:133333936 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130458549-G-T?dataset=gnomad_r3",
        "id": "9-130458549-G-T",
        "variant": "9:130458549 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130458549-G-T?dataset=gnomad_r4",
        "id": "9-130458549-G-T",
        "variant": "9:130458549 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130458549,
          "referenceAllele": "G",
          "start": 130458548
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130458549G>T",
        "CM000671.2:g.130458549G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133333936,
          "referenceAllele": "G",
          "start": 133333935
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133333936G>T",
        "CM000671.1:g.133333936G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132323757,
          "referenceAllele": "G",
          "start": 132323756
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132323757G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18843,
          "referenceAllele": "G",
          "start": 18842
        }
      ],
      "hgvs": [
        "NG_011542.1:g.18843G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000253004.6:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.323G>T"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.323G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg108Leu"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg108Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000253004.6:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000361469.2:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "G",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000361471.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000422569.5:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394212.1:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000394212.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000443588.1:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397785.1:p.Arg108Leu",
        "hgvsWellDefined": "ENSP00000397785.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000467695.5:n.32G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091714",
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Arg108Leu",
        "hgvsWellDefined": "NP_000041.2:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052853",
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg108Leu",
        "hgvsWellDefined": "NP_446464.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg108Leu",
        "hgvsWellDefined": "XP_005272257.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.437G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg146Leu",
        "hgvsWellDefined": "XP_011517007.1:p.Arg146Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg108Leu",
        "hgvsWellDefined": "XP_005272257.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.437G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg146Leu",
        "hgvsWellDefined": "XP_011517007.1:p.Arg146Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.419G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Arg140Leu",
        "hgvsWellDefined": "XP_016870218.1:p.Arg140Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052853",
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.323G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg108Leu",
        "hgvsWellDefined": "NP_446464.1:p.Arg108Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.323G>T"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.323G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg108Leu"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg108Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}