Canonical Allele Identifier: CA016797

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6900
• ClinVar RCV Id: RCV000007309 ; RCV000155750 ; RCV000221353 ; RCV002228004 ; RCV001810833
• 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

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