{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8601798",
  "communityStandardTitle": [
    "NM_002087.4(GRN):c.253C>G (p.Pro85Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793673[alleleid]",
        "alleleId": 793673,
        "preferredName": "NM_002087.4(GRN):c.253C>G (p.Pro85Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805122",
        "RCV": [
          "RCV000992526",
          "RCV002454237",
          "RCV002067595",
          "RCV004553533"
        ],
        "variationId": 805122
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42426908-C-G",
        "id": "17-42426908-C-G",
        "variant": "17:42426908 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42426908C>G?assembly=hg19",
        "id": "chr17:g.42426908C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44349540C>G?assembly=hg38",
        "id": "chr17:g.44349540C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143560849",
        "rs": 143560849
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42426908-C-G?dataset=gnomad_r2_1",
        "id": "17-42426908-C-G",
        "variant": "17:42426908 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44349540-C-G?dataset=gnomad_r3",
        "id": "17-44349540-C-G",
        "variant": "17:44349540 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44349540-C-G?dataset=gnomad_r4",
        "id": "17-44349540-C-G",
        "variant": "17:44349540 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44349540,
          "referenceAllele": "C",
          "start": 44349539
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44349540C>G",
        "CM000679.2:g.44349540C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42426908,
          "referenceAllele": "C",
          "start": 42426907
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42426908C>G",
        "CM000679.1:g.42426908C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39782434,
          "referenceAllele": "C",
          "start": 39782433
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39782434C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9418,
          "referenceAllele": "C",
          "start": 9417
        }
      ],
      "hgvs": [
        "NG_007886.1:g.9418C>G",
        "LRG_661:g.9418C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.8:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000053867.2:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.253C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.253C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Pro85Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Pro85Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000639447.1:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492014.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000492014.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000053867.7:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053867.2:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000053867.2:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000586782.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468318.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000468318.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587387.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467431.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000467431.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587518.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465518.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000465518.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000587958.1:n.289C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588143.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465375.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000465375.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588170.5:n.349C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000588237.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466611.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000466611.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589265.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467616.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000467616.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000589536.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466956.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000466956.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000591740.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467022.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000467022.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000592323.5:n.416C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000592783.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467870.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000467870.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "ENST00000593167.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466405.1:p.Pro85Ala",
        "hgvsWellDefined": "ENSP00000466405.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983837",
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.3:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Pro85Ala",
        "hgvsWellDefined": "NP_002078.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_005257253.1:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257310.1:p.Pro85Ala",
        "hgvsWellDefined": "XP_005257310.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "XM_024450730.1:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306498.1:p.Pro85Ala",
        "hgvsWellDefined": "XP_024306498.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983837",
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004601",
      "geneNCBI_id": 2896,
      "geneSymbol": "GRN",
      "hgvs": [
        "NM_002087.4:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002078.1:p.Pro85Ala",
        "hgvsWellDefined": "NP_002078.1:p.Pro85Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000053867.8:c.253C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002087.4:c.253C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000053867.2:p.Pro85Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002078.1:p.Pro85Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}