{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119262",
  "communityStandardTitle": [
    "NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23100[alleleid]",
        "alleleId": 23100,
        "preferredName": "NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8061",
        "RCV": [
          "RCV000008527"
        ],
        "variationId": 8061
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-13896274-C-T",
        "id": "3-13896274-C-T",
        "variant": "3:13896274 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.13896274C>T?assembly=hg19",
        "id": "chr3:g.13896274C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.13854777C>T?assembly=hg38",
        "id": "chr3:g.13854777C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893832",
        "rs": 104893832
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-13896274-C-T?dataset=gnomad_r2_1",
        "id": "3-13896274-C-T",
        "variant": "3:13896274 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-13854777-C-T?dataset=gnomad_r4",
        "id": "3-13854777-C-T",
        "variant": "3:13854777 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 13854777,
          "referenceAllele": "C",
          "start": 13854776
        }
      ],
      "hgvs": [
        "NC_000003.12:g.13854777C>T",
        "CM000665.2:g.13854777C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 13896274,
          "referenceAllele": "C",
          "start": 13896273
        }
      ],
      "hgvs": [
        "NC_000003.11:g.13896274C>T",
        "CM000665.1:g.13896274C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 13871275,
          "referenceAllele": "C",
          "start": 13871274
        }
      ],
      "hgvs": [
        "NC_000003.10:g.13871275C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30345,
          "referenceAllele": "G",
          "start": 30344
        }
      ],
      "hgvs": [
        "NG_008088.1:g.30345G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000833"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "ENST00000285018.5:c.325G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285018.4:p.Ala109Thr",
        "hgvsWellDefined": "ENSP00000285018.4:p.Ala109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285018.5:c.325G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004625.4:c.325G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285018.4:p.Ala109Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004616.2:p.Ala109Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "ENST00000285018.4:c.325G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285018.4:p.Ala109Thr",
        "hgvsWellDefined": "ENSP00000285018.4:p.Ala109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096524",
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "NM_004625.3:c.325G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004616.2:p.Ala109Thr",
        "hgvsWellDefined": "NP_004616.2:p.Ala109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "XM_011534090.1:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532392.1:p.Ala42Thr",
        "hgvsWellDefined": "XP_011532392.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "XM_011534091.1:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532393.1:p.Ala42Thr",
        "hgvsWellDefined": "XP_011532393.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "XM_011534091.2:c.124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532393.1:p.Ala42Thr",
        "hgvsWellDefined": "XP_011532393.1:p.Ala42Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096524",
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012786",
      "geneNCBI_id": 7476,
      "geneSymbol": "WNT7A",
      "hgvs": [
        "NM_004625.4:c.325G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004616.2:p.Ala109Thr",
        "hgvsWellDefined": "NP_004616.2:p.Ala109Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696193",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285018.5:c.325G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004625.4:c.325G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285018.4:p.Ala109Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004616.2:p.Ala109Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}