{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406046440",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.71+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1382534[alleleid]",
        "alleleId": 1382534,
        "preferredName": "NM_001022.4(RPS19):c.71+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1523971",
        "RCV": [
          "RCV002031373"
        ],
        "variationId": 1523971
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42364916G>C?assembly=hg19",
        "id": "chr19:g.42364916G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41860846G>C?assembly=hg38",
        "id": "chr19:g.41860846G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2123256342",
        "rs": 2123256342
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41860846,
          "referenceAllele": "G",
          "start": 41860845
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41860846G>C",
        "CM000681.2:g.41860846G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 42364916,
          "referenceAllele": "G",
          "start": 42364915
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42364916G>C",
        "CM000681.1:g.42364916G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 47056756,
          "referenceAllele": "G",
          "start": 47056755
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47056756G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5929,
          "referenceAllele": "G",
          "start": 5928
        }
      ],
      "hgvs": [
        "NG_007080.2:g.5929G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5929,
          "referenceAllele": "G",
          "start": 5928
        }
      ],
      "hgvs": [
        "NG_007080.3:g.5929G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.71+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.71+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:n.71+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:n.71+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.-152+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:n.-152+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 120,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 77,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 68,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598399.1:c.68+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472660.1:n.68+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598466.5:n.106+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000601492.5:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471621.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 120,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.71+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.71+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:n.71+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:n.71+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 162,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.71+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:n.71+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}