{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14664695",
  "communityStandardTitle": [
    "NM_003830.4(SIGLEC5):c.1464+1541T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.52127744A>G?assembly=hg19",
        "id": "chr19:g.52127744A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.51624491A>G?assembly=hg38",
        "id": "chr19:g.51624491A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10414149",
        "rs": 10414149
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-52127744-A-G?dataset=gnomad_r2_1",
        "id": "19-52127744-A-G",
        "variant": "19:52127744 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-51624491-A-G?dataset=gnomad_r3",
        "id": "19-51624491-A-G",
        "variant": "19:51624491 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-51624491-A-G?dataset=gnomad_r4",
        "id": "19-51624491-A-G",
        "variant": "19:51624491 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51624491,
          "referenceAllele": "A",
          "start": 51624490
        }
      ],
      "hgvs": [
        "NC_000019.10:g.51624491A>G",
        "CM000681.2:g.51624491A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 52127744,
          "referenceAllele": "A",
          "start": 52127743
        }
      ],
      "hgvs": [
        "NC_000019.9:g.52127744A>G",
        "CM000681.1:g.52127744A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 56819556,
          "referenceAllele": "A",
          "start": 56819555
        }
      ],
      "hgvs": [
        "NC_000019.8:g.56819556A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1530,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "ENST00000683636.1:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507738.1:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683636.1:c.1464+1541T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003830.4:c.1464+1541T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000507738.1:n.1464+1541T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003821.1:n.1464+1541T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1594,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1594,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "hgvs": [
        "ENST00000429354.3:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415200.2:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1864,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1864,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "ENST00000534261.3:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473238.1:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1464,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1464,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "ENST00000570106.6:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455510.2:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1505,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "hgvs": [
        "ENST00000599649.5:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470259.1:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1603,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "NM_003830.3:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003821.1:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "endIntronDirection": "+",
          "endIntronOffset": 2658,
          "referenceAllele": "T",
          "start": 1475,
          "startIntronDirection": "+",
          "startIntronOffset": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "XM_011527438.1:c.1382+2658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525740.1:n.1382+2658T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "endIntronDirection": "+",
          "endIntronOffset": 2658,
          "referenceAllele": "T",
          "start": 1475,
          "startIntronDirection": "+",
          "startIntronOffset": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "XM_011527438.2:c.1382+2658T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525740.1:n.1382+2658T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1584,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "XM_017027419.1:c.1491+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882908.1:n.1491+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "endIntronDirection": "+",
          "endIntronOffset": 2658,
          "referenceAllele": "T",
          "start": 1448,
          "startIntronDirection": "+",
          "startIntronOffset": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "NM_001384708.1:c.1382+2658T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371637.1:n.1382+2658T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1245,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "NM_001384709.1:c.1179+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371638.1:n.1179+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1530,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "T",
          "start": 1530,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010874",
      "geneNCBI_id": 8778,
      "geneSymbol": "SIGLEC5",
      "hgvs": [
        "NM_003830.4:c.1464+1541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003821.1:n.1464+1541T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727438",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683636.1:c.1464+1541T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003830.4:c.1464+1541T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000507738.1:n.1464+1541T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003821.1:n.1464+1541T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}