{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118738",
  "communityStandardTitle": [
    "NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22395[alleleid]",
        "alleleId": 22395,
        "preferredName": "NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7356",
        "RCV": [
          "RCV000007781"
        ],
        "variationId": 7356
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-121174221-A-C",
        "id": "11-121174221-A-C",
        "variant": "11:121174221 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121174221A>C?assembly=hg19",
        "id": "chr11:g.121174221A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.121303512A>C?assembly=hg38",
        "id": "chr11:g.121303512A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894297",
        "rs": 104894297
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121174221-A-C?dataset=gnomad_r2_1",
        "id": "11-121174221-A-C",
        "variant": "11:121174221 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121303512-A-C?dataset=gnomad_r3",
        "id": "11-121303512-A-C",
        "variant": "11:121303512 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-121303512-A-C?dataset=gnomad_r4",
        "id": "11-121303512-A-C",
        "variant": "11:121303512 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 121303512,
          "referenceAllele": "A",
          "start": 121303511
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121303512A>C",
        "CM000673.2:g.121303512A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 121174221,
          "referenceAllele": "A",
          "start": 121174220
        }
      ],
      "hgvs": [
        "NC_000011.9:g.121174221A>C",
        "CM000673.1:g.121174221A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 120679431,
          "referenceAllele": "A",
          "start": 120679430
        }
      ],
      "hgvs": [
        "NC_000011.8:g.120679431A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15834,
          "referenceAllele": "A",
          "start": 15833
        }
      ],
      "hgvs": [
        "NG_009446.1:g.15834A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000264027.9:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264027.4:p.Tyr46Ser",
        "hgvsWellDefined": "ENSP00000264027.4:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264027.9:c.137A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006918.5:c.137A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264027.4:p.Tyr46Ser"
          },
          "RefSeq": {
            "hgvs": "NP_008849.2:p.Tyr46Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "A",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000264027.8:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264027.4:p.Tyr46Ser",
        "hgvsWellDefined": "ENSP00000264027.4:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000392789.2:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376539.2:p.Tyr46Ser",
        "hgvsWellDefined": "ENSP00000376539.2:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000524683.5:n.193A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000527762.5:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436290.1:p.Tyr46Ser",
        "hgvsWellDefined": "ENSP00000436290.1:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "A",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000531140.1:n.205A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000534230.5:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432550.1:p.Tyr46Ser",
        "hgvsWellDefined": "ENSP00000432550.1:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "A",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "ENST00000534455.5:n.283A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092212",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "NM_001024956.2:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020127.1:p.Tyr46Ser",
        "hgvsWellDefined": "NP_001020127.1:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118739",
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "referenceAllele": "A",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "NM_006918.4:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008849.2:p.Tyr46Ser",
        "hgvsWellDefined": "NP_008849.2:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118739",
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "NM_006918.5:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008849.2:p.Tyr46Ser",
        "hgvsWellDefined": "NP_008849.2:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264027.9:c.137A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006918.5:c.137A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264027.4:p.Tyr46Ser"
          },
          "RefSeq": {
            "hgvs": "NP_008849.2:p.Tyr46Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA092212",
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "A",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010547",
      "geneNCBI_id": 6309,
      "geneSymbol": "SC5D",
      "hgvs": [
        "NM_001024956.3:c.137A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020127.1:p.Tyr46Ser",
        "hgvsWellDefined": "NP_001020127.1:p.Tyr46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711450"
    }
  ],
  "type": "nucleotide"
}