{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA219343",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79179[alleleid]",
        "alleleId": 79179,
        "preferredName": "NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68288",
        "RCV": [
          "RCV000059139",
          "RCV000169003"
        ],
        "variationId": 68288
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118900010A>G?assembly=hg19",
        "id": "chr11:g.118900010A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119029300A>G?assembly=hg38",
        "id": "chr11:g.119029300A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193302887",
        "rs": 193302887
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119029300-A-G?dataset=gnomad_r4",
        "id": "11-119029300-A-G",
        "variant": "11:119029300 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119029300,
          "referenceAllele": "A",
          "start": 119029299
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119029300A>G",
        "CM000673.2:g.119029300A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118900010,
          "referenceAllele": "A",
          "start": 118900009
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118900010A>G",
        "CM000673.1:g.118900010A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118405220,
          "referenceAllele": "A",
          "start": 118405219
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118405220A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6607,
          "referenceAllele": "T",
          "start": 6606
        }
      ],
      "hgvs": [
        "NG_013331.1:g.6607T>C",
        "LRG_187:g.6607T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697848.1:n.299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.543T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "T",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.543T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "T",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.373T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.307T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "T",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.306T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.475T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:p.Tyr24His",
        "hgvsWellDefined": "ENSP00000476242.2:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:p.Tyr24His",
        "hgvsWellDefined": "ENSP00000476176.2:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "T",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.70T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "T",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.493T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.827T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "T",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.70T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "T",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525787.1:n.365T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526626.6:n.265T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "referenceAllele": "T",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.297T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "T",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.88T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 92,
          "referenceAllele": "T",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.197+92T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.1564T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532888.6:n.265T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000534384.1:n.290T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 92,
          "referenceAllele": "T",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.-172+92T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:n.-172+92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:p.Tyr24His",
        "hgvsWellDefined": "ENSP00000475241.2:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219345",
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.70T>C",
        "LRG_187t1:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157749.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971472",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157750.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 92,
          "referenceAllele": "T",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.-172+92T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.-172+92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972381",
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157752.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985168",
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001458.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971472",
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157750.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 92,
          "referenceAllele": "T",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.-172+92T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:n.-172+92T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972381",
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "referenceAllele": "T",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157752.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985168",
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "T",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001458.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219345",
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "referenceAllele": "T",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Tyr24His",
        "hgvsWellDefined": "NP_001157749.1:p.Tyr24His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.70T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.70T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Tyr24His"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Tyr24His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}