Canonical Allele Identifier: CA017004

Gene: SDHD

Linked Data

• ClinVar Variation Id: 187700
• ClinVar RCV Id: RCV000167450 ; RCV000478572 ; RCV002228995
• dbSNP Id: rs786203932
• MyVariant Identifiers: chr11:g.111965626G>A (hg19) ; chr11:g.112094902G>A (hg38)
• PubMed: PMID:15989954

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094902G>A , CM000673.2:g.112094902G>A	GRCh38
NC_000011.9:g.111965626G>A , CM000673.1:g.111965626G>A	GRCh37
NC_000011.8:g.111470836G>A	NCBI36
NG_012337.2:g.13056G>A
NG_012337.3:g.13056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*151G>A	ENSP00000432946.2:n.*151G>A
ENST00000534010.2:c.314+5891G>A	ENSP00000433202.2:n.314+5891G>A
ENST00000375549.8:c.412G>A MANE Select	ENSP00000364699.3:p.Gly138Arg
ENST00000528021.6:c.314+5891G>A	ENSP00000432465.1:n.314+5891G>A
ENST00000375549.7:c.412G>A	ENSP00000364699.3:p.Gly138Arg
ENST00000525291.5:c.295G>A	ENSP00000436669.1:p.Gly99Arg
ENST00000525987.5:n.319+5891G>A
ENST00000526592.5:c.*110G>A	ENSP00000432005.1:n.*110G>A
ENST00000528021.5:c.314+5891G>A	ENSP00000432465.1:n.314+5891G>A
ENST00000528048.5:c.*9G>A	ENSP00000436217.1:n.*9G>A
ENST00000528182.5:c.*9G>A	ENSP00000435475.1:n.*9G>A
ENST00000530923.5:c.456G>A
ENST00000531744.5:c.314+5891G>A	ENSP00000456957.1:n.314+5891G>A
ENST00000532699.1:c.314+5891G>A	ENSP00000456434.1:n.314+5891G>A
ENST00000534010.1:c.145+5891G>A
NM_001276503.1:c.*9G>A	NP_001263432.1:n.*9G>A
NM_001276504.1:c.295G>A	NP_001263433.1:p.Gly99Arg
NM_001276506.1:c.*110G>A	NP_001263435.1:n.*110G>A
NM_003002.3:c.412G>A	NP_002993.1:p.Gly138Arg
NR_077060.1:n.550G>A
NM_003002.4:c.412G>A MANE Select	NP_002993.1:p.Gly138Arg
NM_001276503.2:c.*9G>A	NP_001263432.1:n.*9G>A
NM_001276504.2:c.295G>A	NP_001263433.1:p.Gly99Arg
NM_001276506.2:c.*110G>A	NP_001263435.1:n.*110G>A
NR_077060.2:n.501G>A