{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1672894406",
  "communityStandardTitle": [
    "NM_024573.3(ARMT1):c.559-123T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/963193",
        "rs": 963193
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-151468220-T-A?dataset=gnomad_r4",
        "id": "6-151468220-T-A",
        "variant": "6:151468220 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 151468220,
          "referenceAllele": "T",
          "start": 151468219
        }
      ],
      "hgvs": [
        "NC_000006.12:g.151468220T>A",
        "CM000668.2:g.151468220T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 151789355,
          "referenceAllele": "T",
          "start": 151789354
        }
      ],
      "hgvs": [
        "NC_000006.11:g.151789355T>A",
        "CM000668.1:g.151789355T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 151831048,
          "referenceAllele": "T",
          "start": 151831047
        }
      ],
      "hgvs": [
        "NC_000006.10:g.151831048T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "ENST00000367294.4:c.559-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356263.3:n.559-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749978",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367294.4:c.559-123T>A"
          },
          "RefSeq": {
            "hgvs": "NM_024573.3:c.559-123T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356263.3:n.559-123T>A"
          },
          "RefSeq": {
            "hgvs": "NP_078849.1:n.559-123T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "ENST00000367294.3:c.559-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356263.3:n.559-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "ENST00000494826.1:c.*282-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435882.1:n.*282-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "ENST00000545879.5:c.202-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444121.1:n.202-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "NM_001286562.1:c.202-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273491.1:n.202-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 846,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "NM_024573.2:c.559-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078849.1:n.559-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "NM_024573.3:c.559-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078849.1:n.559-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367294.4:c.559-123T>A"
          },
          "RefSeq": {
            "hgvs": "NM_024573.3:c.559-123T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356263.3:n.559-123T>A"
          },
          "RefSeq": {
            "hgvs": "NP_078849.1:n.559-123T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 532,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017872",
      "geneNCBI_id": 79624,
      "geneSymbol": "ARMT1",
      "hgvs": [
        "NM_001286562.2:c.202-123T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273491.1:n.202-123T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716230"
    }
  ],
  "type": "nucleotide"
}