{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605098",
  "communityStandardTitle": [
    "NM_001256789.3(CACNA1F):c.2543+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269633[alleleid]",
        "alleleId": 269633,
        "preferredName": "NM_001256789.3(CACNA1F):c.2543+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285396",
        "RCV": [
          "RCV000360556",
          "RCV002502130",
          "RCV003417898"
        ],
        "variationId": 285396
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49076092C>T?assembly=hg19",
        "id": "chrX:g.49076092C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49219633C>T?assembly=hg38",
        "id": "chrX:g.49219633C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044841",
        "rs": 886044841
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49219633-C-T?dataset=gnomad_r4",
        "id": "X-49219633-C-T",
        "variant": "X:49219633 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49219633,
          "referenceAllele": "C",
          "start": 49219632
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49219633C>T",
        "CM000685.2:g.49219633C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 49076092,
          "referenceAllele": "C",
          "start": 49076091
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49076092C>T",
        "CM000685.1:g.49076092C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48963036,
          "referenceAllele": "C",
          "start": 48963035
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48963036C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18734,
          "referenceAllele": "G",
          "start": 18733
        }
      ],
      "hgvs": [
        "NG_009095.2:g.18734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001428"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2574,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.10:c.2543+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.6:n.2543+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.2543+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.2543+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:n.2543+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:n.2543+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2605,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2605,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.9:c.2543+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.5:n.2543+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2381,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376251.5:c.2381+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365427.1:n.2381+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376265.2:c.2576+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365441.2:n.2576+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2605,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2605,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.2:c.2543+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:n.2543+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.2:c.2381+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:n.2381+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.3:c.2576+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:n.2576+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2743,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2743,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.1:c.2381+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:n.2381+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2476,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.2:c.2381+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:n.2381+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2574,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.3:c.2543+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:n.2543+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.2543+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.2543+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:n.2543+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:n.2543+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2412,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2412,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.3:c.2381+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:n.2381+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.4:c.2576+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:n.2576+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696344"
    }
  ],
  "type": "nucleotide"
}