{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5161950",
  "communityStandardTitle": [
    "NM_032342.3(PGAP4):c.134G>A (p.Arg45Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2430564[alleleid]",
        "alleleId": 2430564,
        "preferredName": "NM_032342.3(PGAP4):c.134G>A (p.Arg45Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2454815",
        "RCV": [
          "RCV004252144"
        ],
        "variationId": 2454815
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-104239241-C-T",
        "id": "9-104239241-C-T",
        "variant": "9:104239241 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104239241C>T?assembly=hg19",
        "id": "chr9:g.104239241C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101476959C>T?assembly=hg38",
        "id": "chr9:g.101476959C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140612519",
        "rs": 140612519
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104239241-C-T?dataset=gnomad_r2_1",
        "id": "9-104239241-C-T",
        "variant": "9:104239241 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101476959-C-T?dataset=gnomad_r3",
        "id": "9-101476959-C-T",
        "variant": "9:101476959 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101476959-C-T?dataset=gnomad_r4",
        "id": "9-101476959-C-T",
        "variant": "9:101476959 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 101476959,
          "referenceAllele": "C",
          "start": 101476958
        }
      ],
      "hgvs": [
        "NC_000009.12:g.101476959C>T",
        "CM000671.2:g.101476959C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 104239241,
          "referenceAllele": "C",
          "start": 104239240
        }
      ],
      "hgvs": [
        "NC_000009.11:g.104239241C>T",
        "CM000671.1:g.104239241C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 103279062,
          "referenceAllele": "C",
          "start": 103279061
        }
      ],
      "hgvs": [
        "NC_000009.10:g.103279062C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "ENST00000374848.8:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363981.3:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000363981.3:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751508",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374848.8:c.134G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032342.3:c.134G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363981.3:p.Arg45Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115718.1:p.Arg45Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "ENST00000374847.5:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363980.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000363980.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "ENST00000374848.7:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363981.3:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000363981.3:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "ENST00000374851.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363984.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000363984.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877585",
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_001303107.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290036.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_001290036.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877603",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_001303108.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290037.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_001290037.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580478748",
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_032342.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115718.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_115718.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "endIntronDirection": "+",
          "endIntronOffset": 1917,
          "referenceAllele": "C",
          "start": 337,
          "startIntronDirection": "+",
          "startIntronOffset": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051191",
      "geneNCBI_id": 101928470,
      "geneSymbol": "TMEM246-AS1",
      "hgvs": [
        "NR_121573.1:n.337+1917C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 2880,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051191",
      "geneNCBI_id": 101928470,
      "geneSymbol": "TMEM246-AS1",
      "hgvs": [
        "NR_121574.1:n.300-2881C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 4403,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051191",
      "geneNCBI_id": 101928470,
      "geneSymbol": "TMEM246-AS1",
      "hgvs": [
        "NR_121575.1:n.300-4404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 2880,
          "referenceAllele": "C",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051191",
      "geneNCBI_id": 101928470,
      "geneSymbol": "TMEM246-AS1",
      "hgvs": [
        "NR_121576.1:n.171-2881C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "XM_017015206.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870695.1:p.Arg45Gln",
        "hgvsWellDefined": "XP_016870695.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "XM_024447701.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303469.1:p.Arg45Gln",
        "hgvsWellDefined": "XP_024303469.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580478748",
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_032342.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115718.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_115718.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374848.8:c.134G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032342.3:c.134G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363981.3:p.Arg45Gln"
          },
          "RefSeq": {
            "hgvs": "NP_115718.1:p.Arg45Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877585",
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_001303107.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290036.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_001290036.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877603",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_001303108.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290037.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_001290037.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683528"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828469671",
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028180",
      "geneNCBI_id": 84302,
      "geneSymbol": "PGAP4",
      "hgvs": [
        "NM_001371233.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358162.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_001358162.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692742"
    }
  ],
  "type": "nucleotide"
}