{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1346972754",
  "communityStandardTitle": [
    "NM_024334.3(TMEM43):c.934C= (p.Arg312=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113449357",
        "rs": 113449357
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14139231,
          "referenceAllele": "C",
          "start": 14139230
        }
      ],
      "hgvs": [
        "NC_000003.12:g.14139231C=",
        "CM000665.2:g.14139231C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14180731,
          "referenceAllele": "C",
          "start": 14180730
        }
      ],
      "hgvs": [
        "NC_000003.11:g.14180731C=",
        "CM000665.1:g.14180731C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 14155732,
          "referenceAllele": "C",
          "start": 14155731
        }
      ],
      "hgvs": [
        "NC_000003.10:g.14155732C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19292,
          "referenceAllele": "C",
          "start": 19291
        }
      ],
      "hgvs": [
        "NG_008975.1:g.19292C=",
        "LRG_435:g.19292C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001346"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "ENST00000432444.2:c.*964C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395617.1:n.*964C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "ENST00000306077.5:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303992.5:p.Arg312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306077.5:c.934C="
          },
          "RefSeq": {
            "hgvs": "NM_024334.3:c.934C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303992.5:p.Arg312="
          },
          "RefSeq": {
            "hgvs": "NP_077310.1:p.Arg312="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "ENST00000306077.4:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303992.4:p.Arg312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "hgvs": [
        "ENST00000601399.3:n.261C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "hgvs": [
        "ENST00000608606.1:c.170C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068387273",
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NM_024334.2:c.934C=",
        "LRG_435t1:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077310.1:p.Arg312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2779,
          "referenceAllele": "C",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "XM_011534109.1:c.829C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532411.1:p.Arg277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "XM_017007176.2:c.829C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862665.1:p.Arg277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068387273",
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NM_024334.3:c.934C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077310.1:p.Arg312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306077.5:c.934C="
          },
          "RefSeq": {
            "hgvs": "NM_024334.3:c.934C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303992.5:p.Arg312="
          },
          "RefSeq": {
            "hgvs": "NP_077310.1:p.Arg312="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}