{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260012",
  "communityStandardTitle": [
    "NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40148[alleleid]",
        "alleleId": 40148,
        "preferredName": "NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31191",
        "RCV": [
          "RCV000024190"
        ],
        "variationId": 31191
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61136081A>G?assembly=hg19",
        "id": "chr11:g.61136081A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61368609A>G?assembly=hg38",
        "id": "chr11:g.61368609A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907135",
        "rs": 387907135
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61136081-A-G?dataset=gnomad_r2_1",
        "id": "11-61136081-A-G",
        "variant": "11:61136081 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61368609-A-G?dataset=gnomad_r4",
        "id": "11-61368609-A-G",
        "variant": "11:61368609 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 61368609,
          "referenceAllele": "A",
          "start": 61368608
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61368609A>G",
        "CM000673.2:g.61368609A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 61136081,
          "referenceAllele": "A",
          "start": 61136080
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61136081A>G",
        "CM000673.1:g.61136081A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 60892657,
          "referenceAllele": "A",
          "start": 60892656
        }
      ],
      "hgvs": [
        "NC_000011.8:g.60892657A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11609,
          "referenceAllele": "A",
          "start": 11608
        }
      ],
      "hgvs": [
        "NG_032581.1:g.11609A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005175"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000451389.7:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508581.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1056,
          "referenceAllele": "A",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000507563.7:c.*734A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510363.1:n.*734A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3289,
          "referenceAllele": "A",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000542946.2:c.*2375A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445792.1:n.*2375A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000543594.6:c.*600A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509354.1:n.*600A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1123,
          "referenceAllele": "A",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000685597.1:c.*152A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509403.1:n.*152A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "A",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000686820.1:c.*136A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508587.1:n.*136A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000688279.1:c.*136A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510422.1:n.*136A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000688430.1:n.315A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2691,
          "referenceAllele": "A",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000689076.1:c.*1777A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508469.1:n.*1777A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2750,
          "referenceAllele": "A",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000689882.1:c.*2440A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509351.1:n.*2440A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 555,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000691720.1:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509146.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000692219.1:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510149.1:p.Tyr130Cys",
        "hgvsWellDefined": "ENSP00000510149.1:p.Tyr130Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000692667.1:c.*152A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510180.1:n.*152A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1394,
          "referenceAllele": "A",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000692785.1:c.*453A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509310.1:n.*453A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000693557.1:c.*440A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508970.1:n.*440A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000278826.11:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278826.5:p.Tyr130Cys",
        "hgvsWellDefined": "ENSP00000278826.5:p.Tyr130Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278826.11:c.389A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016464.5:c.389A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278826.5:p.Tyr130Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057548.1:p.Tyr130Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000278826.10:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278826.5:p.Tyr130Cys",
        "hgvsWellDefined": "ENSP00000278826.5:p.Tyr130Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000381787.2:c.215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371206.2:p.Tyr72Cys",
        "hgvsWellDefined": "ENSP00000371206.2:p.Tyr72Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1908,
          "referenceAllele": "A",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000423772.6:n.1908A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000539776.1:n.1033A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "-",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 94,
          "startIntronDirection": "-",
          "startIntronOffset": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000543833.1:n.95-163A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "A",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "ENST00000545420.1:n.413A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100324",
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NM_016464.4:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057548.1:p.Tyr130Cys",
        "hgvsWellDefined": "NP_057548.1:p.Tyr130Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "referenceAllele": "A",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NR_028473.1:n.831A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_006718586.1:c.386A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718649.1:p.Tyr129Cys",
        "hgvsWellDefined": "XP_006718649.1:p.Tyr129Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_006718588.2:c.215A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718651.1:p.Tyr72Cys",
        "hgvsWellDefined": "XP_006718651.1:p.Tyr72Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_011545098.1:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543400.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_011545099.1:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543401.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_011545100.1:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543402.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XR_949964.1:n.1083A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XR_949965.1:n.1070+611A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XR_949966.1:n.1070+611A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027892",
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "referenceAllele": "A",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NM_001330281.1:c.215A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317210.1:p.Tyr72Cys",
        "hgvsWellDefined": "NP_001317210.1:p.Tyr72Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_006718585.3:c.*453A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718648.1:n.*453A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 585,
          "referenceAllele": "A",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_006718586.2:c.386A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718649.1:p.Tyr129Cys",
        "hgvsWellDefined": "XP_006718649.1:p.Tyr129Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539657"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_011545098.2:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543400.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_011545099.2:c.376+611A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543401.1:n.376+611A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 2393,
          "referenceAllele": "A",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XM_017017917.1:c.300+2393A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873406.1:n.300+2393A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XR_949964.3:n.1083A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 611,
          "referenceAllele": "A",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "XR_949966.2:n.1070+611A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100324",
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NM_016464.5:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057548.1:p.Tyr130Cys",
        "hgvsWellDefined": "NP_057548.1:p.Tyr130Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278826.11:c.389A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016464.5:c.389A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278826.5:p.Tyr130Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057548.1:p.Tyr130Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027892",
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "A",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NM_001330281.2:c.215A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317210.1:p.Tyr72Cys",
        "hgvsWellDefined": "NP_001317210.1:p.Tyr72Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "referenceAllele": "A",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026944",
      "geneNCBI_id": 51524,
      "geneSymbol": "TMEM138",
      "hgvs": [
        "NR_028473.2:n.458A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702050"
    }
  ],
  "type": "nucleotide"
}