{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1364890117",
  "communityStandardTitle": [
    "NM_015136.3(STAB1):c.1896T= (p.Gly632=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1010553",
        "rs": 1010553
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 52506757,
          "referenceAllele": "T",
          "start": 52506756
        }
      ],
      "hgvs": [
        "NC_000003.12:g.52506757T=",
        "CM000665.2:g.52506757T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 52540773,
          "referenceAllele": "T",
          "start": 52540772
        }
      ],
      "hgvs": [
        "NC_000003.11:g.52540773T=",
        "CM000665.1:g.52540773T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 52515813,
          "referenceAllele": "T",
          "start": 52515812
        }
      ],
      "hgvs": [
        "NC_000003.10:g.52515813T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "ENST00000321725.10:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312946.6:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321725.10:c.1896T="
          },
          "RefSeq": {
            "hgvs": "NM_015136.3:c.1896T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312946.6:p.Gly632="
          },
          "RefSeq": {
            "hgvs": "NP_055951.2:p.Gly632="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "ENST00000481607.1:n.1951T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068367331",
      "coordinates": [
        {
          "allele": "T",
          "end": 1970,
          "referenceAllele": "T",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "NM_015136.2:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "NP_055951.2:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_005264973.2:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265030.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_005264974.2:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265031.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_005264975.2:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265032.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_006713065.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713128.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_011533528.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531830.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XR_940395.1:n.1972T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_005264973.3:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005265030.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017005998.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861487.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017005999.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861488.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017006000.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861489.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017006001.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861490.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017006002.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861491.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017006003.1:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861492.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XM_017006004.2:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861493.1:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "XR_001740064.1:n.1972T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068367331",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018628",
      "geneNCBI_id": 23166,
      "geneSymbol": "STAB1",
      "hgvs": [
        "NM_015136.3:c.1896T="
      ],
      "proteinEffect": {
        "hgvs": "NP_055951.2:p.Gly632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321725.10:c.1896T="
          },
          "RefSeq": {
            "hgvs": "NM_015136.3:c.1896T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312946.6:p.Gly632="
          },
          "RefSeq": {
            "hgvs": "NP_055951.2:p.Gly632="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}