{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355303821",
  "communityStandardTitle": [
    "NM_181426.2(CCDC39):c.357+1G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180379648C>T?assembly=hg19",
        "id": "chr3:g.180379648C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180661860C>T?assembly=hg38",
        "id": "chr3:g.180661860C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515392",
        "rs": 397515392
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180661860-C-T?dataset=gnomad_r4",
        "id": "3-180661860-C-T",
        "variant": "3:180661860 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 180661860,
          "referenceAllele": "C",
          "start": 180661859
        }
      ],
      "hgvs": [
        "NC_000003.12:g.180661860C>T",
        "CM000665.2:g.180661860C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 180379648,
          "referenceAllele": "C",
          "start": 180379647
        }
      ],
      "hgvs": [
        "NC_000003.11:g.180379648C>T",
        "CM000665.1:g.180379648C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 181862342,
          "referenceAllele": "C",
          "start": 181862341
        }
      ],
      "hgvs": [
        "NC_000003.10:g.181862342C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22636,
          "referenceAllele": "G",
          "start": 22635
        }
      ],
      "hgvs": [
        "NG_029581.1:g.22636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000476379.6:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.2:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757188",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.357+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.357+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:n.357+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:n.357+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650641.1:n.436+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650889.1:n.529+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651046.1:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499175.1:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651818.1:n.499+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652024.1:n.448+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 494,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652408.1:n.494+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "hgvs": [
        "ENST00000442201.6:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405708.2:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "hgvs": [
        "ENST00000476379.5:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.1:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.1:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 466,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.2:c.357+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:n.357+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.357+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.357+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:n.357+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:n.357+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}