{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10604511", "communityStandardTitle": [ "NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267734[alleleid]", "alleleId": 267734, "preferredName": "NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283497", "RCV": [ "RCV000323798", "RCV000695592", "RCV000984260" ], "variationId": 283497 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71709020G>A?assembly=hg19", "id": "chr2:g.71709020G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71481890G>A?assembly=hg38", "id": "chr2:g.71481890G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886042641", "rs": 886042641 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71481890-G-A?dataset=gnomad_r4", "id": "2-71481890-G-A", "variant": "2:71481890 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71481890, "referenceAllele": "G", "start": 71481889 } ], "hgvs": [ "NC_000002.12:g.71481890G>A", "CM000664.2:g.71481890G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71709020, "referenceAllele": "G", "start": 71709019 } ], "hgvs": [ "NC_000002.11:g.71709020G>A", "CM000664.1:g.71709020G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 71562528, "referenceAllele": "G", "start": 71562527 } ], "hgvs": [ "NC_000002.10:g.71562528G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 33268, "referenceAllele": "G", "start": 33267 } ], "hgvs": [ "NG_008694.1:g.33268G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001172" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.8:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS823608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.156G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.156G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Trp52Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Trp52Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.8:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS754364", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.159G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.159G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Trp53Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Trp53Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000258104.7:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000258104.3:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS250344" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000394120.6:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000377678.2:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS275989" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409366.5:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386512.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281485" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409582.7:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000386547.3:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281674" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409651.5:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386683.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281733" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409744.5:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386285.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281812" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000409762.5:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000387137.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS281827" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410020.7:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386881.3:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS282050" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000410041.1:c.159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386617.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS282070" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000413539.6:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000407046.2:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS283111" }, { "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "ENST00000429174.6:c.156G>A" ], "proteinEffect": { "hgvs": "ENSP00000398305.2:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290540" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012028" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012145" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012146" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012147" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012148" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012149" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.1:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012150" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012151" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012152" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012153" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012154" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012155" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.1:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS012156" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.3:c.156G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS028733" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.3:c.159G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064299" }, { "coordinates": [ { "allele": "A", "end": 1036, "referenceAllele": "G", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.3:c.156G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS064300" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264584.4:c.159G>A" ], "proteinEffect": { "hgvs": "XP_005264641.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535912" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XM_005264585.5:c.156G>A" ], "proteinEffect": { "hgvs": "XP_005264642.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS535913" }, { "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "XR_001738969.1:n.317G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589390" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130987.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124459.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS663608", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000410020.8:c.159G>A" }, "RefSeq": { "hgvs": "NM_001130987.2:c.159G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000386881.3:p.Trp53Ter" }, "RefSeq": { "hgvs": "NP_001124459.1:p.Trp53Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130455.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001123927.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677114" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130976.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124448.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677174" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130977.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124449.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677175" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130978.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124450.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677176" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130979.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124451.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677177" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130980.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124452.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677178" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130981.2:c.156G>A" ], "proteinEffect": { "hgvs": "NP_001124453.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677179" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130982.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124454.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677180" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130983.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124455.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677181" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130984.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124456.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677182" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130985.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124457.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677183" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_001130986.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001124458.1:p.Trp53Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677184" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "G", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN003097", "geneNCBI_id": 8291, "geneSymbol": "DYSF", "hgvs": [ "NM_003494.4:c.156G>A" ], "proteinEffect": { "hgvs": "NP_003485.1:p.Trp52Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS695850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000258104.8:c.156G>A" }, "RefSeq": { "hgvs": "NM_003494.4:c.156G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258104.3:p.Trp52Ter" }, "RefSeq": { "hgvs": "NP_003485.1:p.Trp52Ter" } } } } ], "type": "nucleotide" }