{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220515",
  "communityStandardTitle": [
    "NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1365850",
        "active": true,
        "id": "COSM1365850"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6360537",
        "active": true,
        "id": "COSM6360537"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17048[alleleid]",
        "alleleId": 17048,
        "preferredName": "NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2009",
        "RCV": [
          "RCV000002086",
          "RCV000078408"
        ],
        "variationId": 2009
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23898591-G-A",
        "id": "13-23898591-G-A",
        "variant": "13:23898591 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23898591G>A?assembly=hg19",
        "id": "chr13:g.23898591G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23324452G>A?assembly=hg38",
        "id": "chr13:g.23324452G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894423",
        "rs": 104894423
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23898591-G-A?dataset=gnomad_r2_1",
        "id": "13-23898591-G-A",
        "variant": "13:23898591 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23324452-G-A?dataset=gnomad_r3",
        "id": "13-23324452-G-A",
        "variant": "13:23324452 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23324452-G-A?dataset=gnomad_r4",
        "id": "13-23324452-G-A",
        "variant": "13:23324452 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23324452,
          "referenceAllele": "G",
          "start": 23324451
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23324452G>A",
        "CM000675.2:g.23324452G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23898591,
          "referenceAllele": "G",
          "start": 23898590
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23898591G>A",
        "CM000675.1:g.23898591G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 22796591,
          "referenceAllele": "G",
          "start": 22796590
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22796591G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148532,
          "referenceAllele": "G",
          "start": 148531
        }
      ],
      "hgvs": [
        "NG_008759.1:g.148532G>A",
        "LRG_207:g.148532G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001202"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 12336,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 12337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2186-12337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2186-12337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 29333,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 29332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+29333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+29333C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 2777,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-2778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-2778C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 1807,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-1808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-1808C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "ENST00000218867.4:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218867.3:p.Glu263Lys",
        "hgvsWellDefined": "ENSP00000218867.3:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218867.4:c.787G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000231.3:c.787G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218867.3:p.Glu263Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000222.2:p.Glu263Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "ENST00000218867.3:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218867.3:p.Glu263Lys",
        "hgvsWellDefined": "ENSP00000218867.3:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220517",
      "coordinates": [
        {
          "allele": "A",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "NM_000231.2:c.787G>A",
        "LRG_207t1:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000222.1:p.Glu263Lys",
        "hgvsWellDefined": "NP_000222.1:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "XM_005266505.2:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266562.1:p.Glu263Lys",
        "hgvsWellDefined": "XP_005266562.1:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "XM_006719861.2:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719924.1:p.Glu281Lys",
        "hgvsWellDefined": "XP_006719924.1:p.Glu281Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "XM_006719861.3:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719924.1:p.Glu281Lys",
        "hgvsWellDefined": "XP_006719924.1:p.Glu281Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "XM_024449397.1:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305165.1:p.Glu263Lys",
        "hgvsWellDefined": "XP_024305165.1:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825096037",
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "NM_000231.3:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000222.2:p.Glu263Lys",
        "hgvsWellDefined": "NP_000222.2:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710811",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218867.4:c.787G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000231.3:c.787G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218867.3:p.Glu263Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000222.2:p.Glu263Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139744609",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "NM_001378244.1:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365173.1:p.Glu281Lys",
        "hgvsWellDefined": "NP_001365173.1:p.Glu281Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828751258",
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "NM_001378245.1:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365174.1:p.Glu263Lys",
        "hgvsWellDefined": "NP_001365174.1:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828751515",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "G",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010809",
      "geneNCBI_id": 6445,
      "geneSymbol": "SGCG",
      "hgvs": [
        "NM_001378246.1:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365175.1:p.Glu263Lys",
        "hgvsWellDefined": "NP_001365175.1:p.Glu263Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721592"
    }
  ],
  "type": "nucleotide"
}