{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6647150",
  "communityStandardTitle": [
    "NM_145064.3(STAC3):c.432+4A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413342[alleleid]",
        "alleleId": 413342,
        "preferredName": "NM_145064.3(STAC3):c.432+4A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425008",
        "RCV": [
          "RCV000487958",
          "RCV000677631"
        ],
        "variationId": 425008
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-57642485-T-A",
        "id": "12-57642485-T-A",
        "variant": "12:57642485 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57642485T>A?assembly=hg19",
        "id": "chr12:g.57642485T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57248702T>A?assembly=hg38",
        "id": "chr12:g.57248702T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751033943",
        "rs": 751033943
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57642485-T-A?dataset=gnomad_r2_1",
        "id": "12-57642485-T-A",
        "variant": "12:57642485 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57248702-T-A?dataset=gnomad_r4",
        "id": "12-57248702-T-A",
        "variant": "12:57248702 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57248702,
          "referenceAllele": "T",
          "start": 57248701
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57248702T>A",
        "CM000674.2:g.57248702T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57642485,
          "referenceAllele": "T",
          "start": 57642484
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57642485T>A",
        "CM000674.1:g.57642485T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 55928752,
          "referenceAllele": "T",
          "start": 55928751
        }
      ],
      "hgvs": [
        "NC_000012.10:g.55928752T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7492,
          "referenceAllele": "A",
          "start": 7491
        }
      ],
      "hgvs": [
        "NG_033835.1:g.7492A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005533"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000332782.7:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329200.2:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332782.7:c.432+4A>T"
          },
          "RefSeq": {
            "hgvs": "NM_145064.3:c.432+4A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329200.2:n.432+4A>T"
          },
          "RefSeq": {
            "hgvs": "NP_659501.1:n.432+4A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000332782.6:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329200.2:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000546246.2:c.-126-504A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441515.2:n.-126-504A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000553489.1:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452299.1:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 558,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000554578.5:c.315+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452068.1:n.315+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "ENST00000557176.5:c.-126-504A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450740.1:n.-126-504A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 567,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_001286256.1:c.315+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273185.1:n.315+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_001286257.1:c.-126-504A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273186.1:n.-126-504A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_145064.2:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659501.1:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NR_104422.1:n.202-504A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "XM_011538126.1:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536428.1:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "XR_944515.1:n.628+4A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "XM_011538126.2:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536428.1:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "XR_002957305.1:n.628+4A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "XR_944515.2:n.628+4A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 628,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_145064.3:c.432+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659501.1:n.432+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332782.7:c.432+4A>T"
          },
          "RefSeq": {
            "hgvs": "NM_145064.3:c.432+4A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329200.2:n.432+4A>T"
          },
          "RefSeq": {
            "hgvs": "NP_659501.1:n.432+4A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_001286256.2:c.315+4A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273185.1:n.315+4A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NM_001286257.2:c.-126-504A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273186.1:n.-126-504A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 195,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028423",
      "geneNCBI_id": 246329,
      "geneSymbol": "STAC3",
      "hgvs": [
        "NR_104422.2:n.196-504A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703017"
    }
  ],
  "type": "nucleotide"
}