{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8643950",
  "communityStandardTitle": [
    "NM_000023.4(SGCA):c.956+13A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1918831[alleleid]",
        "alleleId": 1918831,
        "preferredName": "NM_000023.4(SGCA):c.956+13A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2190082",
        "RCV": [
          "RCV002636970"
        ],
        "variationId": 2190082
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48247725-A-G",
        "id": "17-48247725-A-G",
        "variant": "17:48247725 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48247725A>G?assembly=hg19",
        "id": "chr17:g.48247725A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50170364A>G?assembly=hg38",
        "id": "chr17:g.50170364A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752418232",
        "rs": 752418232
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48247725-A-G?dataset=gnomad_r2_1",
        "id": "17-48247725-A-G",
        "variant": "17:48247725 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50170364-A-G?dataset=gnomad_r4",
        "id": "17-50170364-A-G",
        "variant": "17:50170364 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 50170364,
          "referenceAllele": "A",
          "start": 50170363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50170364A>G",
        "CM000679.2:g.50170364A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 48247725,
          "referenceAllele": "A",
          "start": 48247724
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48247725A>G",
        "CM000679.1:g.48247725A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45602724,
          "referenceAllele": "A",
          "start": 45602723
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45602724A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9360,
          "referenceAllele": "A",
          "start": 9359
        }
      ],
      "hgvs": [
        "NG_008889.1:g.9360A>G",
        "LRG_203:g.9360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001283"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000504073.2:c.806+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422030.2:n.806+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.6:n.310-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.2:c.576-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426606.2:n.576-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 836,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000682109.1:c.836+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508041.1:n.836+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1554,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683226.1:n.1554+13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 176,
          "referenceAllele": "A",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683294.1:c.*59+176A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508134.1:n.*59+176A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683544.1:n.335A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.8:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.956+13A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.956+13A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:n.956+13A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:n.956+13A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.7:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000344627.10:c.585-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345522.6:n.585-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000504073.1:c.273+13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.5:c.306-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426104.1:n.306-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 419,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.1:c.420-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513821.5:c.748-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426571.1:n.748-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 375,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513942.5:n.376-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.2:c.956+13A>G",
        "LRG_203t1:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.1:c.585-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.1:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.1:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 872,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.1:c.806+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.1:n.806+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.1:c.748-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.1:n.748-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.1:c.585-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.1:n.585-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 867,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.1:c.650+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:n.650+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_934517.1:n.814-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1012,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.3:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 640,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.2:c.585-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.1:n.804-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1478,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1478,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.2:c.1118+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.2:n.1118+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1330,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1330,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.2:c.968+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.2:n.968+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 1269,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.2:c.910-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.2:n.910-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.2:c.747-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.2:n.747-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.2:c.650+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:n.650+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_024450873.1:c.650+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306641.1:n.650+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 1553,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_002958056.1:n.1553+13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "endIntronDirection": "+",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 992,
          "startIntronDirection": "+",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.4:c.956+13A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:n.956+13A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.956+13A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.956+13A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:n.956+13A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:n.956+13A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.3:c.585-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:n.585-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.2:n.784-276A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703679"
    }
  ],
  "type": "nucleotide"
}