{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254741107",
  "communityStandardTitle": [
    "NM_004466.6(GPC5):c.325+102637G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.92203813G>A?assembly=hg19",
        "id": "chr13:g.92203813G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.91551559G>A?assembly=hg38",
        "id": "chr13:g.91551559G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16946160",
        "rs": 16946160
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-92203813-G-A?dataset=gnomad_r2_1",
        "id": "13-92203813-G-A",
        "variant": "13:92203813 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-91551559-G-A?dataset=gnomad_r3",
        "id": "13-91551559-G-A",
        "variant": "13:91551559 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-91551559-G-A?dataset=gnomad_r4",
        "id": "13-91551559-G-A",
        "variant": "13:91551559 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 91551559,
          "referenceAllele": "G",
          "start": 91551558
        }
      ],
      "hgvs": [
        "NC_000013.11:g.91551559G>A",
        "CM000675.2:g.91551559G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 92203813,
          "referenceAllele": "G",
          "start": 92203812
        }
      ],
      "hgvs": [
        "NC_000013.10:g.92203813G>A",
        "CM000675.1:g.92203813G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 91001814,
          "referenceAllele": "G",
          "start": 91001813
        }
      ],
      "hgvs": [
        "NC_000013.9:g.91001814G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157879,
          "referenceAllele": "G",
          "start": 157878
        }
      ],
      "hgvs": [
        "NG_009370.1:g.157879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157879,
          "referenceAllele": "G",
          "start": 157878
        }
      ],
      "hgvs": [
        "NG_009370.2:g.157879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673528"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "ENST00000377067.9:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366267.3:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751859",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377067.9:c.325+102637G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004466.6:c.325+102637G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366267.3:n.325+102637G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004457.1:n.325+102637G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 765,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "ENST00000377067.8:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366267.3:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "NM_004466.5:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004457.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521054.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519356.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521055.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519357.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521056.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519358.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521057.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519359.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521058.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519360.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521059.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519361.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521060.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519362.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521054.3:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519356.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521055.3:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519357.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521056.3:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519358.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521057.3:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519359.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521058.2:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519360.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521059.2:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519361.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_011521060.2:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519362.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_017020435.2:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875924.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_017020436.2:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875925.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "XM_017020437.1:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875926.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "+",
          "endIntronOffset": 102637,
          "referenceAllele": "G",
          "start": 751,
          "startIntronDirection": "+",
          "startIntronOffset": 102636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004453",
      "geneNCBI_id": 2262,
      "geneSymbol": "GPC5",
      "hgvs": [
        "NM_004466.6:c.325+102637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004457.1:n.325+102637G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377067.9:c.325+102637G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004466.6:c.325+102637G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366267.3:n.325+102637G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004457.1:n.325+102637G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}