Canonical Allele Identifier: CA016797
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 6900
ClinVar RCV Id: RCV000007309 RCV000155750 RCV000221353 RCV001810833 RCV002228004
dbSNP Id: rs104894304
MyVariant Identifiers: chr11:g.111965555A>G (hg19) chr11:g.112094831A>G (hg38)
PubMed: PMID:11343322 PMID:15328326 PMID:16080474 PMID:16080530 PMID:16317055 PMID:17563904 PMID:18692411 PMID:22241717 PMID:22456618 PMID:23175444 PMID:25275255 PMID:27279923
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094831A>G , CM000673.2:g.112094831A>G GRCh38
NC_000011.9:g.111965555A>G , CM000673.1:g.111965555A>G GRCh37
NC_000011.8:g.111470765A>G NCBI36
NG_012337.2:g.12985A>G
NG_012337.3:g.12985A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.*80A>G ENSP00000432946.2:n.*80A>G
ENST00000534010.2:c.314+5820A>G ENSP00000433202.2:n.314+5820A>G
ENST00000375549.8:c.341A>G MANE Select ENSP00000364699.3:p.Tyr114Cys
ENST00000528021.6:c.314+5820A>G ENSP00000432465.1:n.314+5820A>G
ENST00000375549.7:c.341A>G ENSP00000364699.3:p.Tyr114Cys
ENST00000525291.5:c.224A>G ENSP00000436669.1:p.Tyr75Cys
ENST00000525987.5:n.319+5820A>G
ENST00000526592.5:c.*39A>G ENSP00000432005.1:n.*39A>G
ENST00000528021.5:c.314+5820A>G ENSP00000432465.1:n.314+5820A>G
ENST00000528048.5:c.196A>G ENSP00000436217.1:p.Met66Val
ENST00000528182.5:c.334A>G ENSP00000435475.1:p.Met112Val
ENST00000530923.5:c.385A>G
ENST00000531744.5:c.314+5820A>G ENSP00000456957.1:n.314+5820A>G
ENST00000532699.1:c.314+5820A>G ENSP00000456434.1:n.314+5820A>G
ENST00000534010.1:c.145+5820A>G
NM_001276503.1:c.196A>G NP_001263432.1:p.Met66Val
NM_001276504.1:c.224A>G NP_001263433.1:p.Tyr75Cys
NM_001276506.1:c.*39A>G NP_001263435.1:n.*39A>G
NM_003002.3:c.341A>G NP_002993.1:p.Tyr114Cys
NR_077060.1:n.479A>G
NM_003002.4:c.341A>G MANE Select NP_002993.1:p.Tyr114Cys
NM_001276503.2:c.196A>G NP_001263432.1:p.Met66Val
NM_001276504.2:c.224A>G NP_001263433.1:p.Tyr75Cys
NM_001276506.2:c.*39A>G NP_001263435.1:n.*39A>G
NR_077060.2:n.430A>G
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