Canonical Allele Identifier: CA382618885

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2567224
• ClinVar RCV Id: RCV003311137
• gnomAD v4: 11-112094837-A-G
• MyVariant Identifiers: chr11:g.111965561A>G (hg19) ; chr11:g.112094837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094837A>G , CM000673.2:g.112094837A>G	GRCh38
NC_000011.9:g.111965561A>G , CM000673.1:g.111965561A>G	GRCh37
NC_000011.8:g.111470771A>G	NCBI36
NG_012337.2:g.12991A>G
NG_012337.3:g.12991A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*86A>G	ENSP00000432946.2:n.*86A>G
ENST00000534010.2:c.314+5826A>G	ENSP00000433202.2:n.314+5826A>G
ENST00000375549.8:c.347A>G MANE Select	ENSP00000364699.3:p.His116Arg
ENST00000528021.6:c.314+5826A>G	ENSP00000432465.1:n.314+5826A>G
ENST00000375549.7:c.347A>G	ENSP00000364699.3:p.His116Arg
ENST00000525291.5:c.230A>G	ENSP00000436669.1:p.His77Arg
ENST00000525987.5:n.319+5826A>G
ENST00000526592.5:c.*45A>G	ENSP00000432005.1:n.*45A>G
ENST00000528021.5:c.314+5826A>G	ENSP00000432465.1:n.314+5826A>G
ENST00000528048.5:c.202A>G	ENSP00000436217.1:p.Met68Val
ENST00000528182.5:c.340A>G	ENSP00000435475.1:p.Met114Val
ENST00000530923.5:c.391A>G
ENST00000531744.5:c.314+5826A>G	ENSP00000456957.1:n.314+5826A>G
ENST00000532699.1:c.314+5826A>G	ENSP00000456434.1:n.314+5826A>G
ENST00000534010.1:c.145+5826A>G
NM_001276503.1:c.202A>G	NP_001263432.1:p.Met68Val
NM_001276504.1:c.230A>G	NP_001263433.1:p.His77Arg
NM_001276506.1:c.*45A>G	NP_001263435.1:n.*45A>G
NM_003002.3:c.347A>G	NP_002993.1:p.His116Arg
NR_077060.1:n.485A>G
NM_003002.4:c.347A>G MANE Select	NP_002993.1:p.His116Arg
NM_001276503.2:c.202A>G	NP_001263432.1:p.Met68Val
NM_001276504.2:c.230A>G	NP_001263433.1:p.His77Arg
NM_001276506.2:c.*45A>G	NP_001263435.1:n.*45A>G
NR_077060.2:n.436A>G