{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466670179",
  "communityStandardTitle": [
    "NM_006013.5(RPL10):c.191-5C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018953[alleleid]",
        "alleleId": 1018953,
        "preferredName": "NM_006013.5(RPL10):c.191-5C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028473",
        "RCV": [
          "RCV001329520"
        ],
        "variationId": 1028473
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1286783643",
        "rs": 1286783643
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154399798-C-T?dataset=gnomad_r4",
        "id": "X-154399798-C-T",
        "variant": "X:154399798 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154399798,
          "referenceAllele": "C",
          "start": 154399797
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154399798C>T",
        "CM000685.2:g.154399798C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153628139,
          "referenceAllele": "C",
          "start": 153628138
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153628139C>T",
        "CM000685.1:g.153628139C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153281333,
          "referenceAllele": "C",
          "start": 153281332
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153281333C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17291,
          "referenceAllele": "G",
          "start": 17290
        }
      ],
      "hgvs": [
        "NG_012884.2:g.17291G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "hgvs": [
        "NG_012890.2:g.6570C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000369817.7:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358832.2:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750479",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369817.7:c.191-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006013.5:c.191-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358832.2:n.191-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_006004.3:n.191-5C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000344746.8:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341730.4:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 766,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000369817.6:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358832.2:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 238,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000406022.6:c.38-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385621.2:n.38-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000424325.6:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413436.2:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 245,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000436473.5:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388600.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 139,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000451365.1:c.140-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406125.1:n.140-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000458500.5:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395025.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000467168.5:n.214-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000482732.1:n.616C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000485196.5:n.422-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000489200.5:n.424-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000491035.5:n.334-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000492572.5:n.562-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "ENST00000618723.4:c.83-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479103.1:n.83-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001256577.2:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243506.2:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 435,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001256580.2:c.83-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243509.2:n.83-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001303624.1:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290553.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 547,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001303625.1:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290554.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001303626.1:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290555.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_006013.4:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006004.3:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_001303624.2:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290553.1:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010298",
      "geneNCBI_id": 6134,
      "geneSymbol": "RPL10",
      "hgvs": [
        "NM_006013.5:c.191-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006004.3:n.191-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696585",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369817.7:c.191-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006013.5:c.191-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358832.2:n.191-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_006004.3:n.191-5C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}