{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA241417423",
  "communityStandardTitle": [
    "NM_182496.3(CCDC38):c.1278+561A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.96271428T>C?assembly=hg19",
        "id": "chr12:g.96271428T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.95877650T>C?assembly=hg38",
        "id": "chr12:g.95877650T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1036429",
        "rs": 1036429
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-96271428-T-C?dataset=gnomad_r2_1",
        "id": "12-96271428-T-C",
        "variant": "12:96271428 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-95877650-T-C?dataset=gnomad_r3",
        "id": "12-95877650-T-C",
        "variant": "12:95877650 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-95877650-T-C?dataset=gnomad_r4",
        "id": "12-95877650-T-C",
        "variant": "12:95877650 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 95877650,
          "referenceAllele": "T",
          "start": 95877649
        }
      ],
      "hgvs": [
        "NC_000012.12:g.95877650T>C",
        "CM000674.2:g.95877650T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 96271428,
          "referenceAllele": "T",
          "start": 96271427
        }
      ],
      "hgvs": [
        "NC_000012.11:g.96271428T>C",
        "CM000674.1:g.96271428T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 94795559,
          "referenceAllele": "T",
          "start": 94795558
        }
      ],
      "hgvs": [
        "NC_000012.10:g.94795559T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1476,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1476,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "ENST00000344280.8:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345470.3:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344280.8:c.1278+561A>G"
          },
          "RefSeq": {
            "hgvs": "NM_182496.3:c.1278+561A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345470.3:n.1278+561A>G"
          },
          "RefSeq": {
            "hgvs": "NP_872302.2:n.1278+561A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1836,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "ENST00000344280.7:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345470.3:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "ENST00000549876.5:c.164+561A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 2037,
          "referenceAllele": "T",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011162",
      "geneNCBI_id": 6636,
      "geneSymbol": "SNRPF",
      "hgvs": [
        "ENST00000552085.1:c.130-2038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447127.1:n.130-2038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "endIntronDirection": "-",
          "endIntronOffset": 2037,
          "referenceAllele": "T",
          "start": 238,
          "startIntronDirection": "-",
          "startIntronOffset": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011162",
      "geneNCBI_id": 6636,
      "geneSymbol": "SNRPF",
      "hgvs": [
        "ENST00000553192.5:c.130-2038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447751.1:n.130-2038T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1512,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1512,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "NM_182496.2:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_872302.2:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1305,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_006719229.1:c.786+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719292.1:n.786+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1495,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537883.1:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536185.1:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1655,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537884.1:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536186.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1579,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1579,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537885.1:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536187.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1691,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537886.1:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536188.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1728,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537887.1:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536189.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537888.1:c.627+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536190.1:n.627+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XR_429080.1:n.1510+561A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1305,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_006719229.2:c.786+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719292.1:n.786+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1542,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1542,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537883.2:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536185.1:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1655,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537884.2:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536186.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1703,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1703,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537886.2:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536188.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1740,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1740,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537887.2:c.1158+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536189.1:n.1158+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1726,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "XM_011537888.3:c.627+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536190.1:n.627+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1476,
          "endIntronDirection": "+",
          "endIntronOffset": 561,
          "referenceAllele": "A",
          "start": 1476,
          "startIntronDirection": "+",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026843",
      "geneNCBI_id": 120935,
      "geneSymbol": "CCDC38",
      "hgvs": [
        "NM_182496.3:c.1278+561A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_872302.2:n.1278+561A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344280.8:c.1278+561A>G"
          },
          "RefSeq": {
            "hgvs": "NM_182496.3:c.1278+561A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345470.3:n.1278+561A>G"
          },
          "RefSeq": {
            "hgvs": "NP_872302.2:n.1278+561A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}