{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA563533553",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1135+3G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3048287[alleleid]",
        "alleleId": 3048287,
        "preferredName": "NM_024577.4(SH3TC2):c.1135+3G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2890732",
        "RCV": [
          "RCV003743471"
        ],
        "variationId": 2890732
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148411114C>T?assembly=hg19",
        "id": "chr5:g.148411114C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149031551C>T?assembly=hg38",
        "id": "chr5:g.149031551C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793267",
        "rs": 1064793267
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148411114-C-T?dataset=gnomad_r2_1",
        "id": "5-148411114-C-T",
        "variant": "5:148411114 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149031551-C-T?dataset=gnomad_r4",
        "id": "5-149031551-C-T",
        "variant": "5:149031551 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149031551,
          "referenceAllele": "C",
          "start": 149031550
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149031551C>T",
        "CM000667.2:g.149031551C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148411114,
          "referenceAllele": "C",
          "start": 148411113
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148411114C>T",
        "CM000667.1:g.148411114C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148391307,
          "referenceAllele": "C",
          "start": 148391306
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148391307C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36624,
          "referenceAllele": "G",
          "start": 36623
        }
      ],
      "hgvs": [
        "NG_007947.2:g.36624G>A",
        "LRG_269:g.36624G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1155,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1155+3G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1135+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:n.1135+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1135+3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1135+3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:n.1135+3G>A"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:n.1135+3G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1515,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*419+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*419+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1257,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*523+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*523+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*523+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*523+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.665+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.665+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1135+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:n.1135+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 63,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.63+3G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1243,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*915+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*915+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1114+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:n.1114+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 509,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513340.1:n.509+3G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1232,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*523+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*523+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1135+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:n.1135+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1135+3G>A",
        "LRG_269t1:c.1135+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:n.1135+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1135+3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:n.1135+3G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1135+3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1135+3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:n.1135+3G>A"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:n.1135+3G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}