{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2833164",
  "communityStandardTitle": [
    "NM_018659.3(CYTL1):c.407G>A (p.Arg136His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2342808[alleleid]",
        "alleleId": 2342808,
        "preferredName": "NM_018659.3(CYTL1):c.407G>A (p.Arg136His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2351747",
        "RCV": [
          "RCV004189849"
        ],
        "variationId": 2351747
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-5016882-C-T",
        "id": "4-5016882-C-T",
        "variant": "4:5016882 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5016882C>T?assembly=hg19",
        "id": "chr4:g.5016882C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.5015155C>T?assembly=hg38",
        "id": "chr4:g.5015155C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368311678",
        "rs": 368311678
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5016882-C-T?dataset=gnomad_r2_1",
        "id": "4-5016882-C-T",
        "variant": "4:5016882 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5015155-C-T?dataset=gnomad_r3",
        "id": "4-5015155-C-T",
        "variant": "4:5015155 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-5015155-C-T?dataset=gnomad_r4",
        "id": "4-5015155-C-T",
        "variant": "4:5015155 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5015155,
          "referenceAllele": "C",
          "start": 5015154
        }
      ],
      "hgvs": [
        "NC_000004.12:g.5015155C>T",
        "CM000666.2:g.5015155C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5016882,
          "referenceAllele": "C",
          "start": 5016881
        }
      ],
      "hgvs": [
        "NC_000004.11:g.5016882C>T",
        "CM000666.1:g.5016882C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 5067783,
          "referenceAllele": "C",
          "start": 5067782
        }
      ],
      "hgvs": [
        "NC_000004.10:g.5067783C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "ENST00000307746.9:c.407G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303550.4:p.Arg136His",
        "hgvsWellDefined": "ENSP00000303550.4:p.Arg136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307746.9:c.407G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018659.3:c.407G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303550.4:p.Arg136His"
          },
          "RefSeq": {
            "hgvs": "NP_061129.1:p.Arg136His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "ENST00000307746.8:c.407G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303550.4:p.Arg136His",
        "hgvsWellDefined": "ENSP00000303550.4:p.Arg136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "ENST00000506508.1:c.225G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "ENST00000509419.1:c.274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580405165",
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "referenceAllele": "G",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "NM_018659.2:c.407G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061129.1:p.Arg136His",
        "hgvsWellDefined": "NP_061129.1:p.Arg136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 4767,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 4768
        }
      ],
      "hgvs": [
        "XR_925085.1:n.149-4768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 4767,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 4768
        }
      ],
      "hgvs": [
        "XR_925086.1:n.149-4768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 4767,
          "referenceAllele": "C",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 4768
        }
      ],
      "hgvs": [
        "XR_925087.1:n.149-4768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "XM_017008299.1:c.*57G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863788.1:n.*57G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580405165",
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024435",
      "geneNCBI_id": 54360,
      "geneSymbol": "CYTL1",
      "hgvs": [
        "NM_018659.3:c.407G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061129.1:p.Arg136His",
        "hgvsWellDefined": "NP_061129.1:p.Arg136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307746.9:c.407G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018659.3:c.407G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303550.4:p.Arg136His"
          },
          "RefSeq": {
            "hgvs": "NP_061129.1:p.Arg136His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}