Canonical Allele Identifier: CA2580083536

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1739553
• ClinVar RCV Id: RCV002331890 ; RCV003094637

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094920_112094925del , CM000673.2:g.112094920_112094925del	GRCh38
NC_000011.9:g.111965644_111965649del , CM000673.1:g.111965644_111965649del	GRCh37
NC_000011.8:g.111470854_111470859del	NCBI36
NG_012337.2:g.13074_13079del
NG_012337.3:g.13074_13079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*169_*174del	ENSP00000432946.2:n.*169_*174del
ENST00000534010.2:c.314+5909_314+5914del	ENSP00000433202.2:n.314+5909_314+5914del
ENST00000375549.8:c.430_435del MANE Select	ENSP00000364699.3:p.Tyr144_His145del
ENST00000528021.6:c.314+5909_314+5914del	ENSP00000432465.1:n.314+5909_314+5914del
ENST00000375549.7:c.430_435del	ENSP00000364699.3:p.Tyr144_His145del
ENST00000525291.5:c.313_318del	ENSP00000436669.1:p.Tyr105_His106del
ENST00000525987.5:n.319+5909_319+5914del
ENST00000526592.5:c.*128_*133del	ENSP00000432005.1:n.*128_*133del
ENST00000528021.5:c.314+5909_314+5914del	ENSP00000432465.1:n.314+5909_314+5914del
ENST00000528048.5:c.*27_*32del	ENSP00000436217.1:n.*27_*32del
ENST00000528182.5:c.*27_*32del	ENSP00000435475.1:n.*27_*32del
ENST00000530923.5:c.474_479del
ENST00000531744.5:c.314+5909_314+5914del	ENSP00000456957.1:n.314+5909_314+5914del
ENST00000532699.1:c.314+5909_314+5914del	ENSP00000456434.1:n.314+5909_314+5914del
ENST00000534010.1:c.145+5909_145+5914del
NM_001276503.1:c.*27_*32del	NP_001263432.1:n.*27_*32del
NM_001276504.1:c.313_318del	NP_001263433.1:p.Tyr105_His106del
NM_001276506.1:c.*128_*133del	NP_001263435.1:n.*128_*133del
NM_003002.3:c.430_435del	NP_002993.1:p.Tyr144_His145del
NR_077060.1:n.568_573del
NM_003002.4:c.430_435del MANE Select	NP_002993.1:p.Tyr144_His145del
NM_001276503.2:c.*27_*32del	NP_001263432.1:n.*27_*32del
NM_001276504.2:c.313_318del	NP_001263433.1:p.Tyr105_His106del
NM_001276506.2:c.*128_*133del	NP_001263435.1:n.*128_*133del
NR_077060.2:n.519_524del