Canonical Allele Identifier: CA016622

Gene: SDHD

Linked Data

• ClinVar Variation Id: 6907
• ClinVar RCV Id: RCV000007316 ; RCV000020523 ; RCV001529735
• dbSNP Id: rs80338847
• MyVariant Identifiers: chr11:g.111965630T>C (hg19) ; chr11:g.112094906T>C (hg38)
• PubMed: PMID:11391798 ; PMID:12114404 ; PMID:20301715

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094906T>C , CM000673.2:g.112094906T>C	GRCh38
NC_000011.9:g.111965630T>C , CM000673.1:g.111965630T>C	GRCh37
NC_000011.8:g.111470840T>C	NCBI36
NG_012337.2:g.13060T>C
NG_012337.3:g.13060T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*155T>C	ENSP00000432946.2:n.*155T>C
ENST00000534010.2:c.314+5895T>C	ENSP00000433202.2:n.314+5895T>C
ENST00000375549.8:c.416T>C MANE Select	ENSP00000364699.3:p.Leu139Pro
ENST00000528021.6:c.314+5895T>C	ENSP00000432465.1:n.314+5895T>C
ENST00000375549.7:c.416T>C	ENSP00000364699.3:p.Leu139Pro
ENST00000525291.5:c.299T>C	ENSP00000436669.1:p.Leu100Pro
ENST00000525987.5:n.319+5895T>C
ENST00000526592.5:c.*114T>C	ENSP00000432005.1:n.*114T>C
ENST00000528021.5:c.314+5895T>C	ENSP00000432465.1:n.314+5895T>C
ENST00000528048.5:c.*13T>C	ENSP00000436217.1:n.*13T>C
ENST00000528182.5:c.*13T>C	ENSP00000435475.1:n.*13T>C
ENST00000530923.5:c.460T>C
ENST00000531744.5:c.314+5895T>C	ENSP00000456957.1:n.314+5895T>C
ENST00000532699.1:c.314+5895T>C	ENSP00000456434.1:n.314+5895T>C
ENST00000534010.1:c.145+5895T>C
NM_001276503.1:c.*13T>C	NP_001263432.1:n.*13T>C
NM_001276504.1:c.299T>C	NP_001263433.1:p.Leu100Pro
NM_001276506.1:c.*114T>C	NP_001263435.1:n.*114T>C
NM_003002.3:c.416T>C	NP_002993.1:p.Leu139Pro
NR_077060.1:n.554T>C
NM_003002.4:c.416T>C MANE Select	NP_002993.1:p.Leu139Pro
NM_001276503.2:c.*13T>C	NP_001263432.1:n.*13T>C
NM_001276504.2:c.299T>C	NP_001263433.1:p.Leu100Pro
NM_001276506.2:c.*114T>C	NP_001263435.1:n.*114T>C
NR_077060.2:n.505T>C