{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363355432",
  "communityStandardTitle": [
    "NM_004638.4(PRRC2A):c.3854G>T (p.Gly1285Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31600304G>T?assembly=hg19",
        "id": "chr6:g.31600304G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31632527G>T?assembly=hg38",
        "id": "chr6:g.31632527G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2736158",
        "rs": 2736158
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31632527-G-T?dataset=gnomad_r3",
        "id": "6-31632527-G-T",
        "variant": "6:31632527 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31632527-G-T?dataset=gnomad_r4",
        "id": "6-31632527-G-T",
        "variant": "6:31632527 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31632527,
          "referenceAllele": "G",
          "start": 31632526
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31632527G>T",
        "CM000668.2:g.31632527G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31600304,
          "referenceAllele": "G",
          "start": 31600303
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31600304G>T",
        "CM000668.1:g.31600304G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31708283,
          "referenceAllele": "G",
          "start": 31708282
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31708283G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4098,
          "referenceAllele": "G",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.3:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:p.Gly1285Val",
        "hgvsWellDefined": "ENSP00000365201.2:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.3854G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.3854G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:p.Gly1285Val"
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:p.Gly1285Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4056,
          "referenceAllele": "G",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376007.8:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365175.4:p.Gly1285Val",
        "hgvsWellDefined": "ENSP00000365175.4:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4088,
          "referenceAllele": "G",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "ENST00000376033.2:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365201.2:p.Gly1285Val",
        "hgvsWellDefined": "ENSP00000365201.2:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072128289",
      "coordinates": [
        {
          "allele": "T",
          "end": 4140,
          "referenceAllele": "G",
          "start": 4139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.3:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:p.Gly1285Val",
        "hgvsWellDefined": "NP_004629.3:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4103,
          "referenceAllele": "G",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.2:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:p.Gly1285Val",
        "hgvsWellDefined": "NP_542417.2:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4004,
          "referenceAllele": "G",
          "start": 4003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_011514890.1:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513192.1:p.Gly1285Val",
        "hgvsWellDefined": "XP_011513192.1:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3855,
          "referenceAllele": "G",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "XM_017011274.1:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866763.1:p.Gly1285Val",
        "hgvsWellDefined": "XP_016866763.1:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072128289",
      "coordinates": [
        {
          "allele": "T",
          "end": 4098,
          "referenceAllele": "G",
          "start": 4097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_004638.4:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004629.3:p.Gly1285Val",
        "hgvsWellDefined": "NP_004629.3:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376033.3:c.3854G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004638.4:c.3854G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365201.2:p.Gly1285Val"
          },
          "RefSeq": {
            "hgvs": "NP_004629.3:p.Gly1285Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4061,
          "referenceAllele": "G",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013918",
      "geneNCBI_id": 7916,
      "geneSymbol": "PRRC2A",
      "hgvs": [
        "NM_080686.3:c.3854G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542417.2:p.Gly1285Val",
        "hgvsWellDefined": "NP_542417.2:p.Gly1285Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699537"
    }
  ],
  "type": "nucleotide"
}