{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6311832",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=325369[alleleid]",
        "alleleId": 325369,
        "preferredName": "NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302707",
        "RCV": [
          "RCV000278475",
          "RCV001410122"
        ],
        "variationId": 302707
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118898499-C-G",
        "id": "11-118898499-C-G",
        "variant": "11:118898499 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118898499C>G?assembly=hg19",
        "id": "chr11:g.118898499C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119027789C>G?assembly=hg38",
        "id": "chr11:g.119027789C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776272750",
        "rs": 776272750
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118898499-C-G?dataset=gnomad_r2_1",
        "id": "11-118898499-C-G",
        "variant": "11:118898499 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119027789-C-G?dataset=gnomad_r3",
        "id": "11-119027789-C-G",
        "variant": "11:119027789 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119027789-C-G?dataset=gnomad_r4",
        "id": "11-119027789-C-G",
        "variant": "11:119027789 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119027789,
          "referenceAllele": "C",
          "start": 119027788
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119027789C>G",
        "CM000673.2:g.119027789C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118898499,
          "referenceAllele": "C",
          "start": 118898498
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118898499C>G",
        "CM000673.1:g.118898499C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118403709,
          "referenceAllele": "C",
          "start": 118403708
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118403709C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8118,
          "referenceAllele": "G",
          "start": 8117
        }
      ],
      "hgvs": [
        "NG_013331.1:g.8118G>C",
        "LRG_187:g.8118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697845.1:n.618G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697848.1:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "G",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.1733G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.694G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.2054G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.768G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.619-19G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.701G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.870G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.786G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.888G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.1222G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.465G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526275.5:n.1246G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526626.6:n.427G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.692G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 405,
          "referenceAllele": "G",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.399+405G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.614G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "referenceAllele": "G",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.3075G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532888.6:n.760G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.246G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971199",
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.465G>C",
        "LRG_187t1:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971661",
      "coordinates": [
        {
          "allele": "C",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971998",
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.246G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972570",
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335090",
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "G",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971661",
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971998",
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.246G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Leu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972570",
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335090",
      "coordinates": [
        {
          "allele": "C",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971199",
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "G",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.465G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Leu155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.465G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.465G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Leu155="
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Leu155="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}