{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA227719",
  "communityStandardTitle": [
    "NM_003322.6(TULP1):c.99+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105564[alleleid]",
        "alleleId": 105564,
        "preferredName": "NM_003322.6(TULP1):c.99+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99675",
        "RCV": [
          "RCV000086081",
          "RCV001255922",
          "RCV001376338"
        ],
        "variationId": 99675
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.35480415C>T?assembly=hg19",
        "id": "chr6:g.35480415C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.35512638C>T?assembly=hg38",
        "id": "chr6:g.35512638C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865166",
        "rs": 281865166
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-35480415-C-T?dataset=gnomad_r2_1",
        "id": "6-35480415-C-T",
        "variant": "6:35480415 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-35512638-C-T?dataset=gnomad_r4",
        "id": "6-35512638-C-T",
        "variant": "6:35512638 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 35512638,
          "referenceAllele": "C",
          "start": 35512637
        }
      ],
      "hgvs": [
        "NC_000006.12:g.35512638C>T",
        "CM000668.2:g.35512638C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 35480415,
          "referenceAllele": "C",
          "start": 35480414
        }
      ],
      "hgvs": [
        "NC_000006.11:g.35480415C>T",
        "CM000668.1:g.35480415C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 35588393,
          "referenceAllele": "C",
          "start": 35588392
        }
      ],
      "hgvs": [
        "NC_000006.10:g.35588393C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5233,
          "referenceAllele": "G",
          "start": 5232
        }
      ],
      "hgvs": [
        "NG_009077.1:g.5233G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001413"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000229771.11:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229771.6:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229771.11:c.99+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003322.6:c.99+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229771.6:n.99+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003313.3:n.99+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000229771.10:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229771.6:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000322263.8:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319414.4:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000428978.1:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406765.1:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "ENST00000614066.4:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477534.1:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_001289395.1:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276324.1:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.4:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.5:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_003322.6:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003313.3:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229771.11:c.99+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003322.6:c.99+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229771.6:n.99+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003313.3:n.99+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NM_001289395.2:c.99+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276324.1:n.99+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682649"
    }
  ],
  "type": "nucleotide"
}