{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA219316",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79170[alleleid]",
        "alleleId": 79170,
        "preferredName": "NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68279",
        "RCV": [
          "RCV000059130",
          "RCV001390447"
        ],
        "variationId": 68279
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118898521-G-A",
        "id": "11-118898521-G-A",
        "variant": "11:118898521 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118898521G>A?assembly=hg19",
        "id": "chr11:g.118898521G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119027811G>A?assembly=hg38",
        "id": "chr11:g.119027811G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193302879",
        "rs": 193302879
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118898521-G-A?dataset=gnomad_r2_1",
        "id": "11-118898521-G-A",
        "variant": "11:118898521 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119027811-G-A?dataset=gnomad_r4",
        "id": "11-119027811-G-A",
        "variant": "11:119027811 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119027811,
          "referenceAllele": "G",
          "start": 119027810
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119027811G>A",
        "CM000673.2:g.119027811G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118898521,
          "referenceAllele": "G",
          "start": 118898520
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118898521G>A",
        "CM000673.1:g.118898521G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118403731,
          "referenceAllele": "G",
          "start": 118403730
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118403731G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8096,
          "referenceAllele": "C",
          "start": 8095
        }
      ],
      "hgvs": [
        "NG_013331.1:g.8096C>T",
        "LRG_187:g.8096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697845.1:n.596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697848.1:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.1711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.2032C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 40,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.619-41C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.848C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:p.Ala148Val",
        "hgvsWellDefined": "ENSP00000476242.2:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:p.Ala148Val",
        "hgvsWellDefined": "ENSP00000476176.2:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.764C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.866C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.1200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.443C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526275.5:n.1224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526626.6:n.405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.670C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "endIntronDirection": "+",
          "endIntronOffset": 383,
          "referenceAllele": "C",
          "start": 399,
          "startIntronDirection": "+",
          "startIntronOffset": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.399+383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.592C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3053,
          "referenceAllele": "C",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.3053C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532888.6:n.738C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.224C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:p.Ala75Val",
        "hgvsWellDefined": "ENSP00000475991.2:p.Ala75Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:p.Ala148Val",
        "hgvsWellDefined": "ENSP00000475241.2:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.443C>T",
        "LRG_187t1:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157749.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971652",
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157750.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988195",
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.224C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Ala75Val",
        "hgvsWellDefined": "NP_001157751.1:p.Ala75Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972561",
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157752.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335077",
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001458.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825971652",
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157750.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988195",
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.224C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Ala75Val",
        "hgvsWellDefined": "NP_001157751.1:p.Ala75Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972561",
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157752.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335077",
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001458.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Ala148Val",
        "hgvsWellDefined": "NP_001157749.1:p.Ala148Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.443C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.443C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Ala148Val"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Ala148Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}