Canonical Allele Identifier: CA228555896

Gene: SDHD

Linked Data

• ClinVar Variation Id: 880335
• ClinVar RCV Id: RCV001108548
• dbSNP Id: rs867154098
• gnomAD v2: 11-111965805-A-G
• gnomAD v3: 11-112095081-A-G
• gnomAD v4: 11-112095081-A-G
• MyVariant Identifiers: chr11:g.111965805A>G (hg19) ; chr11:g.112095081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095081A>G , CM000673.2:g.112095081A>G	GRCh38
NC_000011.9:g.111965805A>G , CM000673.1:g.111965805A>G	GRCh37
NC_000011.8:g.111471015A>G	NCBI36
NG_012337.2:g.13235A>G
NG_012337.3:g.13235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*330A>G	ENSP00000432946.2:n.*330A>G
ENST00000534010.2:c.314+6070A>G	ENSP00000433202.2:n.314+6070A>G
ENST00000375549.8:c.*111A>G MANE Select	ENSP00000364699.3:n.*111A>G
ENST00000528021.6:c.314+6070A>G	ENSP00000432465.1:n.314+6070A>G
ENST00000375549.7:c.*111A>G	ENSP00000364699.3:n.*111A>G
ENST00000525291.5:c.*111A>G	ENSP00000436669.1:n.*111A>G
ENST00000525987.5:n.319+6070A>G
ENST00000526592.5:c.*289A>G	ENSP00000432005.1:n.*289A>G
ENST00000528021.5:c.314+6070A>G	ENSP00000432465.1:n.314+6070A>G
ENST00000528048.5:c.*188A>G	ENSP00000436217.1:n.*188A>G
ENST00000528182.5:c.*188A>G	ENSP00000435475.1:n.*188A>G
ENST00000530923.5:c.635A>G
ENST00000531744.5:c.314+6070A>G	ENSP00000456957.1:n.314+6070A>G
ENST00000532699.1:c.314+6070A>G	ENSP00000456434.1:n.314+6070A>G
ENST00000534010.1:c.145+6070A>G
NM_001276503.1:c.*188A>G	NP_001263432.1:n.*188A>G
NM_001276504.1:c.*111A>G	NP_001263433.1:n.*111A>G
NM_001276506.1:c.*289A>G	NP_001263435.1:n.*289A>G
NM_003002.3:c.*111A>G	NP_002993.1:n.*111A>G
NR_077060.1:n.729A>G
NM_003002.4:c.*111A>G MANE Select	NP_002993.1:n.*111A>G
NM_001276503.2:c.*188A>G	NP_001263432.1:n.*188A>G
NM_001276504.2:c.*111A>G	NP_001263433.1:n.*111A>G
NM_001276506.2:c.*289A>G	NP_001263435.1:n.*289A>G
NR_077060.2:n.680A>G