{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2097873",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287511[alleleid]",
        "alleleId": 287511,
        "preferredName": "NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334299",
        "RCV": [
          "RCV000277452",
          "RCV003972409"
        ],
        "variationId": 334299
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-217297520-G-A",
        "id": "2-217297520-G-A",
        "variant": "2:217297520 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217297520G>A?assembly=hg19",
        "id": "chr2:g.217297520G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216432797G>A?assembly=hg38",
        "id": "chr2:g.216432797G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571392819",
        "rs": 571392819
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-217297520-G-A?dataset=gnomad_r2_1",
        "id": "2-217297520-G-A",
        "variant": "2:217297520 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216432797-G-A?dataset=gnomad_r3",
        "id": "2-216432797-G-A",
        "variant": "2:216432797 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216432797-G-A?dataset=gnomad_r4",
        "id": "2-216432797-G-A",
        "variant": "2:216432797 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 216432797,
          "referenceAllele": "G",
          "start": 216432796
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216432797G>A",
        "CM000664.2:g.216432797G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217297520,
          "referenceAllele": "G",
          "start": 217297519
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217297520G>A",
        "CM000664.1:g.217297520G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 217005765,
          "referenceAllele": "G",
          "start": 217005764
        }
      ],
      "hgvs": [
        "NC_000002.10:g.217005765G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25384,
          "referenceAllele": "G",
          "start": 25383
        }
      ],
      "hgvs": [
        "NG_009771.1:g.25384G>A",
        "LRG_108:g.25384G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000394410.2:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000405077.2:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000398969.2:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.1775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "referenceAllele": "G",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:p.Ala394Thr",
        "hgvsWellDefined": "ENSP00000513470.1:p.Ala394Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 2540,
          "referenceAllele": "G",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697900.1:n.1611-2541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.*272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:n.*272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.1646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 2540,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.1335-2541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:n.1335-2541G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "endIntronDirection": "-",
          "endIntronOffset": 2540,
          "referenceAllele": "G",
          "start": 1494,
          "startIntronDirection": "-",
          "startIntronOffset": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.1335-2541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:n.1335-2541G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1530,
          "endIntronDirection": "-",
          "endIntronOffset": 2540,
          "referenceAllele": "G",
          "start": 1530,
          "startIntronDirection": "-",
          "startIntronOffset": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.1335-2541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:n.1335-2541G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:p.Ala394Thr",
        "hgvsWellDefined": "ENSP00000513475.1:p.Ala394Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.*272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:n.*272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697908.1:n.1211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000349823.4:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1414G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1414G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Ala472Thr"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Ala472Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000349823.4:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:p.Ala472Thr",
        "hgvsWellDefined": "ENSP00000350940.5:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000392128.6:c.1006G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375974.2:p.Ala336Thr",
        "hgvsWellDefined": "ENSP00000375974.2:p.Ala336Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000445153.1:c.87G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629912",
      "coordinates": [
        {
          "allele": "A",
          "end": 1558,
          "referenceAllele": "G",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Ala472Thr",
        "hgvsWellDefined": "NP_001120679.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508705",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.1414G>A",
        "LRG_108t1:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Ala472Thr",
        "hgvsWellDefined": "NP_054859.2:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1682,
          "referenceAllele": "G",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:p.Ala472Thr",
        "hgvsWellDefined": "XP_005246688.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Ala472Thr",
        "hgvsWellDefined": "XP_005246689.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:p.Ala472Thr",
        "hgvsWellDefined": "XP_006712620.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Ala472Thr",
        "hgvsWellDefined": "XP_005246689.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:p.Ala168Thr",
        "hgvsWellDefined": "XP_016859717.1:p.Ala168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629912",
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Ala472Thr",
        "hgvsWellDefined": "NP_001120679.1:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645508705",
      "coordinates": [
        {
          "allele": "A",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.1414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Ala472Thr",
        "hgvsWellDefined": "NP_054859.2:p.Ala472Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1414G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1414G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Ala472Thr"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Ala472Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}