{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254984726",
  "communityStandardTitle": [
    "NM_005708.5(GPC6):c.320-141311G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.94341096G>A?assembly=hg19",
        "id": "chr13:g.94341096G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.93688843G>A?assembly=hg38",
        "id": "chr13:g.93688843G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9561428",
        "rs": 9561428
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-94341096-G-A?dataset=gnomad_r2_1",
        "id": "13-94341096-G-A",
        "variant": "13:94341096 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-93688843-G-A?dataset=gnomad_r3",
        "id": "13-93688843-G-A",
        "variant": "13:93688843 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-93688843-G-A?dataset=gnomad_r4",
        "id": "13-93688843-G-A",
        "variant": "13:93688843 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 93688843,
          "referenceAllele": "G",
          "start": 93688842
        }
      ],
      "hgvs": [
        "NC_000013.11:g.93688843G>A",
        "CM000675.2:g.93688843G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 94341096,
          "referenceAllele": "G",
          "start": 94341095
        }
      ],
      "hgvs": [
        "NC_000013.10:g.94341096G>A",
        "CM000675.1:g.94341096G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 93139097,
          "referenceAllele": "G",
          "start": 93139096
        }
      ],
      "hgvs": [
        "NC_000013.9:g.93139097G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467019,
          "referenceAllele": "G",
          "start": 467018
        }
      ],
      "hgvs": [
        "NG_011880.1:g.467019G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002042"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "ENST00000377047.9:c.320-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366246.3:n.320-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377047.9:c.320-141311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005708.5:c.320-141311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366246.3:n.320-141311G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005699.1:n.320-141311G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 934,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "ENST00000377047.8:c.320-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366246.3:n.320-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 951,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "NM_005708.3:c.320-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005699.1:n.320-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_011521044.1:c.110-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519346.1:n.110-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "NM_005708.4:c.320-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005699.1:n.320-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_011521044.2:c.110-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519346.1:n.110-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2559,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 2559,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_017020298.1:c.110-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875787.1:n.110-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7209,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 7209,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_017020299.2:c.110-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875788.1:n.110-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "XM_017020300.1:c.110-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875789.1:n.110-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 141310,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 141311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004454",
      "geneNCBI_id": 10082,
      "geneSymbol": "GPC6",
      "hgvs": [
        "NM_005708.5:c.320-141311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005699.1:n.320-141311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377047.9:c.320-141311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005708.5:c.320-141311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366246.3:n.320-141311G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005699.1:n.320-141311G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}