{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645372649",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.356+3A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430220[alleleid]",
        "alleleId": 430220,
        "preferredName": "NM_001022.4(RPS19):c.356+3A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/436553",
        "RCV": [
          "RCV000503534"
        ],
        "variationId": 436553
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42373287A>C?assembly=hg19",
        "id": "chr19:g.42373287A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41869217A>C?assembly=hg38",
        "id": "chr19:g.41869217A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555841379",
        "rs": 1555841379
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41869217,
          "referenceAllele": "A",
          "start": 41869216
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41869217A>C",
        "CM000681.2:g.41869217A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 42373287,
          "referenceAllele": "A",
          "start": 42373286
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42373287A>C",
        "CM000681.1:g.42373287A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 47065127,
          "referenceAllele": "A",
          "start": 47065126
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47065127A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14300,
          "referenceAllele": "A",
          "start": 14299
        }
      ],
      "hgvs": [
        "NG_007080.2:g.14300A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14300,
          "referenceAllele": "A",
          "start": 14299
        }
      ],
      "hgvs": [
        "NG_007080.3:g.14300A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.356+3A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.356+3A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:n.356+3A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:n.356+3A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 547,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.134+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:n.134+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.369+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:n.369+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.356+3A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.356+3A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:n.356+3A>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:n.356+3A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 547,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.356+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:n.356+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 404,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.369+3A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:n.369+3A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}