{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2263905668",
  "communityStandardTitle": [
    "NM_000023.4(SGCA):c.489A= (p.Gly163=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753650776",
        "rs": 753650776
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1198477143",
        "rs": 1198477143
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50168477,
          "referenceAllele": "A",
          "start": 50168476
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50168477A=",
        "CM000679.2:g.50168477A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48245838,
          "referenceAllele": "A",
          "start": 48245837
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48245838A=",
        "CM000679.1:g.48245838A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45600837,
          "referenceAllele": "A",
          "start": 45600836
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45600837A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7473,
          "referenceAllele": "A",
          "start": 7472
        }
      ],
      "hgvs": [
        "NG_008889.1:g.7473A=",
        "LRG_203:g.7473A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001283"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000504073.2:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422030.2:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "referenceAllele": "A",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.6:n.214A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "A",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.2:c.480A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426606.2:n.480A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000682109.1:c.369A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508041.1:p.Gly123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683226.1:n.199A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "A",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000683294.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508134.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.8:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.489A="
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.489A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:p.Gly163="
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:p.Gly163="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000262018.7:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262018.3:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000344627.10:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345522.6:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000502555.5:c.*148A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422817.1:n.*148A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "referenceAllele": "A",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000511303.5:c.210A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426104.1:p.Gly70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000512526.1:c.324A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "A",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513821.5:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426571.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 280,
          "referenceAllele": "A",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000513942.5:n.280A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "A",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "ENST00000514934.1:c.*195A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423168.1:n.*195A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825005432",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.2:c.489A=",
        "LRG_203t1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825800730",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.1:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.1:c.183A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_934517.1:n.555A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825005432",
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.3:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825800730",
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.2:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.1:n.545A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525120.2:c.651A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523422.2:p.Gly217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525121.2:c.651A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523423.2:p.Gly217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525122.2:c.651A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523424.2:p.Gly217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525123.2:c.651A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523425.2:p.Gly217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_011525124.2:c.183A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523426.1:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XM_024450873.1:c.183A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306641.1:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_002958056.1:n.1007A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825005432",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.4:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000014.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262018.8:c.489A="
          },
          "RefSeq": {
            "hgvs": "NM_000023.4:c.489A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262018.3:p.Gly163="
          },
          "RefSeq": {
            "hgvs": "NP_000014.1:p.Gly163="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825800730",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.3:c.489A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129169.1:p.Gly163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NR_135553.2:n.525A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703679"
    }
  ],
  "type": "nucleotide"
}