{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375227456",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838663[alleleid]",
        "alleleId": 2838663,
        "preferredName": "NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678946",
        "RCV": [
          "RCV003472922",
          "RCV003594697"
        ],
        "variationId": 2678946
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133346876G>C?assembly=hg19",
        "id": "chr9:g.133346876G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130471489G>C?assembly=hg38",
        "id": "chr9:g.130471489G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777828000",
        "rs": 777828000
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130471489-G-C?dataset=gnomad_r4",
        "id": "9-130471489-G-C",
        "variant": "9:130471489 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130471489,
          "referenceAllele": "G",
          "start": 130471488
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130471489G>C",
        "CM000671.2:g.130471489G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133346876,
          "referenceAllele": "G",
          "start": 133346875
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133346876G>C",
        "CM000671.1:g.133346876G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132336697,
          "referenceAllele": "G",
          "start": 132336696
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132336697G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31783,
          "referenceAllele": "G",
          "start": 31782
        }
      ],
      "hgvs": [
        "NG_011542.1:g.31783G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Glu191Gln",
        "hgvsWellDefined": "ENSP00000253004.6:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.571G>C"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.571G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Glu191Gln"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Glu191Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Glu191Gln",
        "hgvsWellDefined": "ENSP00000253004.6:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Glu191Gln",
        "hgvsWellDefined": "ENSP00000361469.2:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Glu191Gln",
        "hgvsWellDefined": "ENSP00000361471.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000422569.5:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394212.1:p.Glu191Gln",
        "hgvsWellDefined": "ENSP00000394212.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000443588.1:c.514G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397785.1:p.Glu172Gln",
        "hgvsWellDefined": "ENSP00000397785.1:p.Glu172Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000467695.5:n.280G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000493984.6:n.402G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091736",
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Glu191Gln",
        "hgvsWellDefined": "NP_000041.2:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742002127",
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Glu191Gln",
        "hgvsWellDefined": "NP_446464.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Glu191Gln",
        "hgvsWellDefined": "XP_005272257.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.685G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Glu229Gln",
        "hgvsWellDefined": "XP_011517007.1:p.Glu229Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Glu191Gln",
        "hgvsWellDefined": "XP_005272257.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.685G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Glu229Gln",
        "hgvsWellDefined": "XP_011517007.1:p.Glu229Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.667G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Glu223Gln",
        "hgvsWellDefined": "XP_016870218.1:p.Glu223Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742002127",
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Glu191Gln",
        "hgvsWellDefined": "NP_446464.1:p.Glu191Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.571G>C"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.571G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Glu191Gln"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Glu191Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}