{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA694345",
  "communityStandardTitle": [
    "NM_014313.4(TMEM50A):c.47G>T (p.Trp16Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2358625[alleleid]",
        "alleleId": 2358625,
        "preferredName": "NM_014313.4(TMEM50A):c.47G>T (p.Trp16Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2369800",
        "RCV": [
          "RCV004207499"
        ],
        "variationId": 2369800
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-25667024-G-T",
        "id": "1-25667024-G-T",
        "variant": "1:25667024 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25667024G>T?assembly=hg19",
        "id": "chr1:g.25667024G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.25340533G>T?assembly=hg38",
        "id": "chr1:g.25340533G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147456847",
        "rs": 147456847
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-25667024-G-T?dataset=gnomad_r2_1",
        "id": "1-25667024-G-T",
        "variant": "1:25667024 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-25340533-G-T?dataset=gnomad_r3",
        "id": "1-25340533-G-T",
        "variant": "1:25340533 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-25340533-G-T?dataset=gnomad_r4",
        "id": "1-25340533-G-T",
        "variant": "1:25340533 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 25340533,
          "referenceAllele": "G",
          "start": 25340532
        }
      ],
      "hgvs": [
        "NC_000001.11:g.25340533G>T",
        "CM000663.2:g.25340533G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 25667024,
          "referenceAllele": "G",
          "start": 25667023
        }
      ],
      "hgvs": [
        "NC_000001.10:g.25667024G>T",
        "CM000663.1:g.25667024G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 25539611,
          "referenceAllele": "G",
          "start": 25539610
        }
      ],
      "hgvs": [
        "NC_000001.9:g.25539611G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000374358.5:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363478.4:p.Trp16Leu",
        "hgvsWellDefined": "ENSP00000363478.4:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374358.5:c.47G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014313.4:c.47G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363478.4:p.Trp16Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055128.1:p.Trp16Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000374358.4:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363478.4:p.Trp16Leu",
        "hgvsWellDefined": "ENSP00000363478.4:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000468704.1:n.418G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000480937.5:n.194G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 2077,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000491936.5:n.137+2077G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "ENST00000498135.5:n.200G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580372184",
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "NM_014313.3:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055128.1:p.Trp16Leu",
        "hgvsWellDefined": "NP_055128.1:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "XM_005245817.1:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245874.1:p.Trp16Leu",
        "hgvsWellDefined": "XP_005245874.1:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "XM_011541159.1:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539461.1:p.Trp16Leu",
        "hgvsWellDefined": "XP_011539461.1:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "XM_011541159.2:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539461.1:p.Trp16Leu",
        "hgvsWellDefined": "XP_011539461.1:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580372184",
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "NM_014313.4:c.47G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055128.1:p.Trp16Leu",
        "hgvsWellDefined": "NP_055128.1:p.Trp16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374358.5:c.47G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014313.4:c.47G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363478.4:p.Trp16Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055128.1:p.Trp16Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}