Canonical Allele Identifier: CA382618944

Gene: SDHD

Linked Data

• ClinVar Variation Id: 577142
• ClinVar RCV Id: RCV002533572
• dbSNP Id: rs758784300
• gnomAD v4: 11-112094846-C-A
• MyVariant Identifiers: chr11:g.111965570C>A (hg19) ; chr11:g.112094846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094846C>A , CM000673.2:g.112094846C>A	GRCh38
NC_000011.9:g.111965570C>A , CM000673.1:g.111965570C>A	GRCh37
NC_000011.8:g.111470780C>A	NCBI36
NG_012337.2:g.13000C>A
NG_012337.3:g.13000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*95C>A	ENSP00000432946.2:n.*95C>A
ENST00000534010.2:c.314+5835C>A	ENSP00000433202.2:n.314+5835C>A
ENST00000375549.8:c.356C>A MANE Select	ENSP00000364699.3:p.Ala119Asp
ENST00000528021.6:c.314+5835C>A	ENSP00000432465.1:n.314+5835C>A
ENST00000375549.7:c.356C>A	ENSP00000364699.3:p.Ala119Asp
ENST00000525291.5:c.239C>A	ENSP00000436669.1:p.Ala80Asp
ENST00000525987.5:n.319+5835C>A
ENST00000526592.5:c.*54C>A	ENSP00000432005.1:n.*54C>A
ENST00000528021.5:c.314+5835C>A	ENSP00000432465.1:n.314+5835C>A
ENST00000528048.5:c.211C>A	ENSP00000436217.1:p.Pro71Thr
ENST00000528182.5:c.349C>A	ENSP00000435475.1:p.Pro117Thr
ENST00000530923.5:c.400C>A
ENST00000531744.5:c.314+5835C>A	ENSP00000456957.1:n.314+5835C>A
ENST00000532699.1:c.314+5835C>A	ENSP00000456434.1:n.314+5835C>A
ENST00000534010.1:c.145+5835C>A
NM_001276503.1:c.211C>A	NP_001263432.1:p.Pro71Thr
NM_001276504.1:c.239C>A	NP_001263433.1:p.Ala80Asp
NM_001276506.1:c.*54C>A	NP_001263435.1:n.*54C>A
NM_003002.3:c.356C>A	NP_002993.1:p.Ala119Asp
NR_077060.1:n.494C>A
NM_003002.4:c.356C>A MANE Select	NP_002993.1:p.Ala119Asp
NM_001276503.2:c.211C>A	NP_001263432.1:p.Pro71Thr
NM_001276504.2:c.239C>A	NP_001263433.1:p.Ala80Asp
NM_001276506.2:c.*54C>A	NP_001263435.1:n.*54C>A
NR_077060.2:n.445C>A