{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA467124889",
  "communityStandardTitle": [
    "NM_001144877.3(SCAI):c.1674+2960T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127730689A>G?assembly=hg19",
        "id": "chr9:g.127730689A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28942070",
        "rs": 28942070
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-124968410-A-G?dataset=gnomad_r4",
        "id": "9-124968410-A-G",
        "variant": "9:124968410 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 124968410,
          "referenceAllele": "A",
          "start": 124968409
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124968410A>G",
        "CM000671.2:g.124968410A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127730689,
          "referenceAllele": "A",
          "start": 127730688
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127730689A>G",
        "CM000671.1:g.127730689A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 126770510,
          "referenceAllele": "A",
          "start": 126770509
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126770510A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180150,
          "referenceAllele": "T",
          "start": 180149
        }
      ],
      "hgvs": [
        "NG_016620.1:g.180150T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003233"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1765,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "ENST00000336505.11:c.1674+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336756.6:n.1674+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747589",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336505.11:c.1674+2960T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001144877.3:c.1674+2960T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336756.6:n.1674+2960T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001138349.1:n.1674+2960T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1733,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "ENST00000336505.10:c.1674+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336756.5:n.1674+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1802,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1802,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "ENST00000373549.8:c.1743+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362650.4:n.1743+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051607",
      "geneNCBI_id": 100418706,
      "geneSymbol": "FXNP2",
      "hgvs": [
        "ENST00000411625.2:n.431T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 606,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "ENST00000467917.5:c.606+2960T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1642,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "ENST00000477186.5:c.*119+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419576.1:n.*119+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1796,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1796,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "NM_001144877.2:c.1674+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138349.1:n.1674+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1865,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1865,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "NM_173690.4:c.1743+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775961.2:n.1743+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1945,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1945,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "XR_929767.1:n.1945+2960T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1765,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "NM_001144877.3:c.1674+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138349.1:n.1674+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336505.11:c.1674+2960T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001144877.3:c.1674+2960T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336756.6:n.1674+2960T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001138349.1:n.1674+2960T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "endIntronDirection": "+",
          "endIntronOffset": 2960,
          "referenceAllele": "T",
          "start": 1834,
          "startIntronDirection": "+",
          "startIntronOffset": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026709",
      "geneNCBI_id": 286205,
      "geneSymbol": "SCAI",
      "hgvs": [
        "NM_173690.5:c.1743+2960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775961.2:n.1743+2960T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700637"
    }
  ],
  "type": "nucleotide"
}