{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2000553843", "communityStandardTitle": [ "NM_003002.4(SDHD):c.341A= (p.Tyr114=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894304", "rs": 104894304 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 112094831, "referenceAllele": "A", "start": 112094830 } ], "hgvs": [ "NC_000011.10:g.112094831A=", "CM000673.2:g.112094831A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 111965555, "referenceAllele": "A", "start": 111965554 } ], "hgvs": [ "NC_000011.9:g.111965555A=", "CM000673.1:g.111965555A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 111470765, "referenceAllele": "A", "start": 111470764 } ], "hgvs": [ "NC_000011.8:g.111470765A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 12985, "referenceAllele": "A", "start": 12984 } ], "hgvs": [ "NG_012337.2:g.12985A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS002375" }, { "coordinates": [ { "allele": "A", "end": 12985, "referenceAllele": "A", "start": 12984 } ], "hgvs": [ "NG_012337.3:g.12985A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616178" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "A", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000530923.6:c.*80A=" ], "proteinEffect": { "hgvs": "ENSP00000432946.2:n.*80A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914240" }, { "coordinates": [ { "allele": "A", "end": 349, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 349, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000534010.2:c.314+5820A=" ], "proteinEffect": { "hgvs": "ENSP00000433202.2:n.314+5820A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914248" }, { "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "A", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000375549.8:c.341A=" ], "proteinEffect": { "hgvs": "ENSP00000364699.3:p.Tyr114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS751633", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375549.8:c.341A=" }, "RefSeq": { "hgvs": "NM_003002.4:c.341A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364699.3:p.Tyr114=" }, "RefSeq": { "hgvs": "NP_002993.1:p.Tyr114=" } } } }, { "coordinates": [ { "allele": "A", "end": 349, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 349, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000528021.6:c.314+5820A=" ], "proteinEffect": { "hgvs": "ENSP00000432465.1:n.314+5820A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS759060" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "A", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000375549.7:c.341A=" ], "proteinEffect": { "hgvs": "ENSP00000364699.3:p.Tyr114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247138" }, { "coordinates": [ { "allele": "A", "end": 233, "referenceAllele": "A", "start": 232 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000525291.5:c.224A=" ], "proteinEffect": { "hgvs": "ENSP00000436669.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247130" }, { "coordinates": [ { "allele": "A", "end": 319, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 319, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "hgvs": [ "ENST00000525987.5:n.319+5820A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS351920" }, { "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "A", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000526592.5:c.*39A=" ], "proteinEffect": { "hgvs": "ENSP00000432005.1:n.*39A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247228" }, { "coordinates": [ { "allele": "A", "end": 349, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 349, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000528021.5:c.314+5820A=" ], "proteinEffect": { "hgvs": "ENSP00000432465.1:n.314+5820A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS246637" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "A", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000528048.5:c.196A=" ], "proteinEffect": { "hgvs": "ENSP00000436217.1:p.Met66=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247249" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "A", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000528182.5:c.334A=" ], "proteinEffect": { "hgvs": "ENSP00000435475.1:p.Met112=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247159" }, { "coordinates": [ { "allele": "A", "end": 385, "referenceAllele": "A", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000530923.5:c.385A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS356100" }, { "coordinates": [ { "allele": "A", "end": 319, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 319, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "hgvs": [ "ENST00000531744.5:c.314+5820A=" ], "proteinEffect": { "hgvs": "ENSP00000456957.1:n.314+5820A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS356784" }, { "coordinates": [ { "allele": "A", "end": 319, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 319, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "hgvs": [ "ENST00000532699.1:c.314+5820A=" ], "proteinEffect": { "hgvs": "ENSP00000456434.1:n.314+5820A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS357586" }, { "coordinates": [ { "allele": "A", "end": 145, "endIntronDirection": "+", "endIntronOffset": 5820, "referenceAllele": "A", "start": 145, "startIntronDirection": "+", "startIntronOffset": 5819 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "ENST00000534010.1:c.145+5820A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS358690" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "A", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276503.1:c.196A=" ], "proteinEffect": { "hgvs": "NP_001263432.1:p.Met66=" }, "referenceSequence": "http://reg.genome.network/refseq/RS020923" }, { "@id": "http://reg.genome.network/allele/PA2826558486", "coordinates": [ { "allele": "A", "end": 308, "referenceAllele": "A", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276504.1:c.224A=" ], "proteinEffect": { "hgvs": "NP_001263433.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS020924" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "A", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276506.1:c.*39A=" ], "proteinEffect": { "hgvs": "NP_001263435.1:n.*39A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS020925" }, { "@id": "http://reg.genome.network/allele/PA2829412628", "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "A", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_003002.3:c.341A=" ], "proteinEffect": { "hgvs": "NP_002993.1:p.Tyr114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028283" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "A", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NR_077060.1:n.479A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS052741" }, { "@id": "http://reg.genome.network/allele/PA2829412628", "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "A", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_003002.4:c.341A=" ], "proteinEffect": { "hgvs": "NP_002993.1:p.Tyr114=" }, "referenceSequence": "http://reg.genome.network/refseq/RS665822", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375549.8:c.341A=" }, "RefSeq": { "hgvs": "NM_003002.4:c.341A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364699.3:p.Tyr114=" }, "RefSeq": { "hgvs": "NP_002993.1:p.Tyr114=" } } } }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "A", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276503.2:c.196A=" ], "proteinEffect": { "hgvs": "NP_001263432.1:p.Met66=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681327" }, { "@id": "http://reg.genome.network/allele/PA2826558486", "coordinates": [ { "allele": "A", "end": 259, "referenceAllele": "A", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276504.2:c.224A=" ], "proteinEffect": { "hgvs": "NP_001263433.1:p.Tyr75=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681328" }, { "coordinates": [ { "allele": "A", "end": 506, "referenceAllele": "A", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NM_001276506.2:c.*39A=" ], "proteinEffect": { "hgvs": "NP_001263435.1:n.*39A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS681329" }, { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "A", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN010683", "geneNCBI_id": 6392, "geneSymbol": "SDHD", "hgvs": [ "NR_077060.2:n.430A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702805" } ], "type": "nucleotide" }