{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA41304498",
  "communityStandardTitle": [
    "NM_015677.4(SH3YL1):c.1+714A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.263270T>C?assembly=hg19",
        "id": "chr2:g.263270T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.263270T>C?assembly=hg38",
        "id": "chr2:g.263270T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10167992",
        "rs": 10167992
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-263270-T-C?dataset=gnomad_r2_1",
        "id": "2-263270-T-C",
        "variant": "2:263270 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-263270-T-C?dataset=gnomad_r3",
        "id": "2-263270-T-C",
        "variant": "2:263270 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-263270-T-C?dataset=gnomad_r4",
        "id": "2-263270-T-C",
        "variant": "2:263270 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 263270,
          "referenceAllele": "T",
          "start": 263269
        }
      ],
      "hgvs": [
        "NC_000002.12:g.263270T>C",
        "CM000664.2:g.263270T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 263270,
          "referenceAllele": "T",
          "start": 263269
        }
      ],
      "hgvs": [
        "NC_000002.11:g.263270T>C",
        "CM000664.1:g.263270T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 253270,
          "referenceAllele": "T",
          "start": 253269
        }
      ],
      "hgvs": [
        "NC_000002.10:g.253270T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3402,
          "referenceAllele": "T",
          "start": 3401
        }
      ],
      "hgvs": [
        "NG_012035.1:g.3402T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000356150.10:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348471.5:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748757",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356150.10:c.1+714A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015677.4:c.1+714A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348471.5:n.1+714A>G"
          },
          "RefSeq": {
            "hgvs": "NP_056492.2:n.1+714A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000356150.9:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348471.5:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 29,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000402632.5:c.-155-484A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384910.1:n.-155-484A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000403658.5:c.-422+1512A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383928.1:n.-422+1512A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000403712.6:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384276.1:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000405430.5:c.-179A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384269.1:n.-179A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "referenceAllele": "A",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000415368.5:c.-215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410235.1:n.-215A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000454318.1:c.-362+1512A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415723.1:n.-362+1512A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105,
          "endIntronDirection": "-",
          "endIntronOffset": 2549,
          "referenceAllele": "A",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000462719.1:n.106-2550A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "endIntronDirection": "+",
          "endIntronOffset": 814,
          "referenceAllele": "A",
          "start": 309,
          "startIntronDirection": "+",
          "startIntronOffset": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000463865.5:n.309+814A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "A",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000465733.5:n.132A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 41,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000468321.5:n.42-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000471948.5:n.714A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "A",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000472861.1:n.132A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000475027.5:n.29+1512A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000477707.5:n.331A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000488044.5:n.85+1512A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 1272,
          "referenceAllele": "A",
          "start": 27,
          "startIntronDirection": "+",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000488979.6:n.27+1272A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15,
          "endIntronDirection": "+",
          "endIntronOffset": 874,
          "referenceAllele": "A",
          "start": 15,
          "startIntronDirection": "+",
          "startIntronOffset": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "ENST00000626873.2:c.-556+874A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485824.1:n.-556+874A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_001159597.2:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153069.1:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_001282682.1:c.-422+1512A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269611.1:n.-422+1512A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_015677.3:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056492.2:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 41,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104223.1:n.42-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104224.1:n.86-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "endIntronDirection": "+",
          "endIntronOffset": 814,
          "referenceAllele": "A",
          "start": 309,
          "startIntronDirection": "+",
          "startIntronOffset": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104225.1:n.309+814A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_015677.4:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056492.2:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356150.10:c.1+714A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015677.4:c.1+714A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348471.5:n.1+714A>G"
          },
          "RefSeq": {
            "hgvs": "NP_056492.2:n.1+714A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104224.2:n.44-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 714,
          "referenceAllele": "A",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_001159597.3:c.1+714A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153069.1:n.1+714A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "+",
          "endIntronOffset": 1512,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "+",
          "startIntronOffset": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NM_001282682.2:c.-422+1512A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269611.1:n.-422+1512A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 41,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104223.2:n.42-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 483,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029546",
      "geneNCBI_id": 26751,
      "geneSymbol": "SH3YL1",
      "hgvs": [
        "NR_104224.3:n.44-484A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730620"
    }
  ],
  "type": "nucleotide"
}