{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118650",
  "communityStandardTitle": [
    "NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22314[alleleid]",
        "alleleId": 22314,
        "preferredName": "NM_003321.5(TUFM):c.1016G>A (p.Arg339Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7275",
        "RCV": [
          "RCV000007698",
          "RCV001851723"
        ],
        "variationId": 7275
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28855329C>T?assembly=hg19",
        "id": "chr16:g.28855329C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.28844008C>T?assembly=hg38",
        "id": "chr16:g.28844008C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434452",
        "rs": 121434452
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28844008-C-T?dataset=gnomad_r3",
        "id": "16-28844008-C-T",
        "variant": "16:28844008 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-28844008-C-T?dataset=gnomad_r4",
        "id": "16-28844008-C-T",
        "variant": "16:28844008 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28844008,
          "referenceAllele": "C",
          "start": 28844007
        }
      ],
      "hgvs": [
        "NC_000016.10:g.28844008C>T",
        "CM000678.2:g.28844008C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28855329,
          "referenceAllele": "C",
          "start": 28855328
        }
      ],
      "hgvs": [
        "NC_000016.9:g.28855329C>T",
        "CM000678.1:g.28855329C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 28762830,
          "referenceAllele": "C",
          "start": 28762829
        }
      ],
      "hgvs": [
        "NC_000016.8:g.28762830C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7401,
          "referenceAllele": "G",
          "start": 7400
        }
      ],
      "hgvs": [
        "NG_008964.1:g.7401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2409,
          "referenceAllele": "C",
          "start": 2408
        }
      ],
      "hgvs": [
        "NG_029706.2:g.2409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004593"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "ENST00000313511.8:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322439.3:p.Arg339Gln",
        "hgvsWellDefined": "ENSP00000322439.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745861",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313511.8:c.1016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003321.5:c.1016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322439.3:p.Arg339Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003312.3:p.Arg339Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "ENST00000313511.7:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322439.3:p.Arg339Gln",
        "hgvsWellDefined": "ENSP00000322439.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "ENST00000565012.1:c.*543G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455007.1:n.*543G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "ENST00000569217.1:n.325G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118651",
      "coordinates": [
        {
          "allele": "A",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "NM_003321.4:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003312.3:p.Arg339Gln",
        "hgvsWellDefined": "NP_003312.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "XM_011545928.1:c.932G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544230.1:p.Arg311Gln",
        "hgvsWellDefined": "XP_011544230.1:p.Arg311Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165288",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "NM_001365360.1:c.932G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352289.1:p.Arg311Gln",
        "hgvsWellDefined": "NP_001352289.1:p.Arg311Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118651",
      "coordinates": [
        {
          "allele": "A",
          "end": 1095,
          "referenceAllele": "G",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "NM_003321.5:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003312.3:p.Arg339Gln",
        "hgvsWellDefined": "NP_003312.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665986",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313511.8:c.1016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003321.5:c.1016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322439.3:p.Arg339Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003312.3:p.Arg339Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165288",
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012420",
      "geneNCBI_id": 7284,
      "geneSymbol": "TUFM",
      "hgvs": [
        "NM_001365360.2:c.932G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352289.1:p.Arg311Gln",
        "hgvsWellDefined": "NP_001352289.1:p.Arg311Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691004"
    }
  ],
  "type": "nucleotide"
}