{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12014457",
  "communityStandardTitle": [
    "NM_001199383.2(RNF145):c.386-1088C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.158604963G>A?assembly=hg19",
        "id": "chr5:g.158604963G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.159177955G>A?assembly=hg38",
        "id": "chr5:g.159177955G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10076782",
        "rs": 10076782
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-158604963-G-A?dataset=gnomad_r2_1",
        "id": "5-158604963-G-A",
        "variant": "5:158604963 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-159177955-G-A?dataset=gnomad_r3",
        "id": "5-159177955-G-A",
        "variant": "5:159177955 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-159177955-G-A?dataset=gnomad_r4",
        "id": "5-159177955-G-A",
        "variant": "5:159177955 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 159177955,
          "referenceAllele": "G",
          "start": 159177954
        }
      ],
      "hgvs": [
        "NC_000005.10:g.159177955G>A",
        "CM000667.2:g.159177955G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 158604963,
          "referenceAllele": "G",
          "start": 158604962
        }
      ],
      "hgvs": [
        "NC_000005.9:g.158604963G>A",
        "CM000667.1:g.158604963G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 158537541,
          "referenceAllele": "G",
          "start": 158537540
        }
      ],
      "hgvs": [
        "NC_000005.8:g.158537541G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 747,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000424310.7:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409064.2:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755023",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424310.7:c.386-1088C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199383.2:c.386-1088C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000409064.2:n.386-1088C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001186312.1:n.386-1088C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000274542.6:c.470-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274542.2:n.470-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000424310.6:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409064.2:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000518802.5:c.476-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430955.1:n.476-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000519865.5:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430397.1:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000520638.1:c.428-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429071.1:n.428-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000521606.6:c.437-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430753.2:n.437-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 760,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "ENST00000611185.4:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482720.1:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199380.1:c.476-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186309.1:n.476-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199381.1:c.437-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186310.1:n.437-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199382.1:c.428-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186311.1:n.428-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 749,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199383.1:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186312.1:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_144726.2:c.470-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653327.1:n.470-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 629,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "XM_005265826.3:c.434-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265883.1:n.434-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 945,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "XM_017009138.2:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864627.1:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "XM_024454383.1:c.434-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310151.1:n.434-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199381.2:c.437-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186310.1:n.437-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 747,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199383.2:c.386-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186312.1:n.386-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424310.7:c.386-1088C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199383.2:c.386-1088C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000409064.2:n.386-1088C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001186312.1:n.386-1088C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199380.2:c.476-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186309.1:n.476-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_001199382.2:c.428-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186311.1:n.428-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 1087,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020853",
      "geneNCBI_id": 153830,
      "geneSymbol": "RNF145",
      "hgvs": [
        "NM_144726.3:c.470-1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653327.1:n.470-1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729253"
    }
  ],
  "type": "nucleotide"
}