{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16796850",
  "communityStandardTitle": [
    "NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513493[alleleid]",
        "alleleId": 513493,
        "preferredName": "NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523023",
        "RCV": [
          "RCV000626226",
          "RCV002529783"
        ],
        "variationId": 523023
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.1470999C>T?assembly=hg19",
        "id": "chr1:g.1470999C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.1535619C>T?assembly=hg38",
        "id": "chr1:g.1535619C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1045410944",
        "rs": 1045410944
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-1470999-C-T?dataset=gnomad_r2_1",
        "id": "1-1470999-C-T",
        "variant": "1:1470999 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-1535619-C-T?dataset=gnomad_r3",
        "id": "1-1535619-C-T",
        "variant": "1:1535619 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-1535619-C-T?dataset=gnomad_r4",
        "id": "1-1535619-C-T",
        "variant": "1:1535619 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535619,
          "referenceAllele": "C",
          "start": 1535618
        }
      ],
      "hgvs": [
        "NC_000001.11:g.1535619C>T",
        "CM000663.2:g.1535619C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470999,
          "referenceAllele": "C",
          "start": 1470998
        }
      ],
      "hgvs": [
        "NC_000001.10:g.1470999C>T",
        "CM000663.1:g.1470999C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460862,
          "referenceAllele": "C",
          "start": 1460861
        }
      ],
      "hgvs": [
        "NC_000001.9:g.1460862C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9742,
          "referenceAllele": "G",
          "start": 9741
        }
      ],
      "hgvs": [
        "NG_041807.1:g.9742G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28477,
          "referenceAllele": "C",
          "start": 28476
        }
      ],
      "hgvs": [
        "NG_053035.1:g.28477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "ENST00000378733.9:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368007.4:p.Val115Met",
        "hgvsWellDefined": "ENSP00000368007.4:p.Val115Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752128",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378733.9:c.343G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114748.2:c.343G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368007.4:p.Val115Met"
          },
          "RefSeq": {
            "hgvs": "NP_001108220.1:p.Val115Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "ENST00000378733.8:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368007.4:p.Val115Met",
        "hgvsWellDefined": "ENSP00000368007.4:p.Val115Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "ENST00000425828.1:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400311.1:p.Val115Met",
        "hgvsWellDefined": "ENSP00000400311.1:p.Val115Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658803081",
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "NM_001114748.1:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108220.1:p.Val115Met",
        "hgvsWellDefined": "NP_001108220.1:p.Val115Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658803081",
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "NM_001114748.2:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108220.1:p.Val115Met",
        "hgvsWellDefined": "NP_001108220.1:p.Val115Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378733.9:c.343G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114748.2:c.343G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368007.4:p.Val115Met"
          },
          "RefSeq": {
            "hgvs": "NP_001108220.1:p.Val115Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}