{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222836",
  "communityStandardTitle": [
    "NM_005105.5(RBM8A):c.*6C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101144[alleleid]",
        "alleleId": 101144,
        "preferredName": "NM_005105.5(RBM8A):c.*6C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95245",
        "RCV": [
          "RCV000081256",
          "RCV003398675",
          "RCV002055193"
        ],
        "variationId": 95245
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-145509217-C-G",
        "id": "1-145509217-C-G",
        "variant": "1:145509217 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.145509217C>G?assembly=hg19",
        "id": "chr1:g.145509217C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.145925876G>C?assembly=hg38",
        "id": "chr1:g.145925876G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12079762",
        "rs": 12079762
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-145509217-C-G?dataset=gnomad_r2_1",
        "id": "1-145509217-C-G",
        "variant": "1:145509217 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-145925876-G-C?dataset=gnomad_r3",
        "id": "1-145925876-G-C",
        "variant": "1:145925876 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-145925876-G-C?dataset=gnomad_r4",
        "id": "1-145925876-G-C",
        "variant": "1:145925876 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 145925876,
          "referenceAllele": "G",
          "start": 145925875
        }
      ],
      "hgvs": [
        "NC_000001.11:g.145925876G>C",
        "CM000663.2:g.145925876G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 145509217,
          "referenceAllele": "C",
          "start": 145509216
        }
      ],
      "hgvs": [
        "NC_000001.10:g.145509217C>G",
        "CM000663.1:g.145509217C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 144220574,
          "referenceAllele": "C",
          "start": 144220573
        }
      ],
      "hgvs": [
        "NC_000001.9:g.144220574C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6661,
          "referenceAllele": "C",
          "start": 6660
        }
      ],
      "hgvs": [
        "NG_032654.2:g.6661C>G",
        "LRG_574:g.6661C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005182"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000691760.1:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510519.1:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000692065.1:n.890C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000583313.7:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463058.2:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000583313.7:c.*6C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005105.5:c.*6C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000463058.2:n.*6C>G"
          },
          "RefSeq": {
            "hgvs": "NP_005096.1:n.*6C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000369307.4:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358313.3:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000583313.6:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463058.1:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000632040.1:c.326C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000632555.1:c.*3+3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488265.1:n.*3+3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000633781.1:c.326C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "ENST00000634130.1:n.449C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "NM_005105.4:c.*6C>G",
        "LRG_574t1:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005096.1:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009905",
      "geneNCBI_id": 9939,
      "geneSymbol": "RBM8A",
      "hgvs": [
        "NM_005105.5:c.*6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005096.1:n.*6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000583313.7:c.*6C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005105.5:c.*6C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000463058.2:n.*6C>G"
          },
          "RefSeq": {
            "hgvs": "NP_005096.1:n.*6C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}