{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389255522",
  "communityStandardTitle": [
    "NM_000359.3(TGM1):c.1491+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1780749[alleleid]",
        "alleleId": 1780749,
        "preferredName": "NM_000359.3(TGM1):c.1491+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1723257",
        "RCV": [
          "RCV002308533"
        ],
        "variationId": 1723257
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24725194C>A?assembly=hg19",
        "id": "chr14:g.24725194C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24255988C>A?assembly=hg38",
        "id": "chr14:g.24255988C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2502496203",
        "rs": 2502496203
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24255988,
          "referenceAllele": "C",
          "start": 24255987
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24255988C>A",
        "CM000676.2:g.24255988C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24725194,
          "referenceAllele": "C",
          "start": 24725193
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24725194C>A",
        "CM000676.1:g.24725194C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23795034,
          "referenceAllele": "C",
          "start": 23795033
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23795034C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12179,
          "referenceAllele": "G",
          "start": 12178
        }
      ],
      "hgvs": [
        "NG_007150.1:g.12179G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12179,
          "referenceAllele": "G",
          "start": 12178
        }
      ],
      "hgvs": [
        "NG_007150.2:g.12179G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1582,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.11:c.1491+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:n.1491+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.1491+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.1491+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:n.1491+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:n.1491+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1615,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.10:c.1491+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:n.1491+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000544573.5:c.165+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439446.1:n.165+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 834,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000559136.1:c.564+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453337.1:n.564+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1615,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.2:c.1491+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:n.1491+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1582,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.3:c.1491+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:n.1491+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662415",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.1491+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.1491+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:n.1491+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:n.1491+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}