Canonical Allele Identifier: CA228556013

Gene: SDHD

Linked Data

• dbSNP Id: rs189227241
• gnomAD v3: 11-112095242-A-G
• gnomAD v4: 11-112095242-A-G
• MyVariant Identifiers: chr11:g.111965966A>G (hg19) ; chr11:g.112095242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095242A>G , CM000673.2:g.112095242A>G	GRCh38
NC_000011.9:g.111965966A>G , CM000673.1:g.111965966A>G	GRCh37
NC_000011.8:g.111471176A>G	NCBI36
NG_012337.2:g.13396A>G
NG_012337.3:g.13396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6231A>G	ENSP00000433202.2:n.314+6231A>G
ENST00000375549.8:c.*272A>G MANE Select	ENSP00000364699.3:n.*272A>G
ENST00000528021.6:c.314+6231A>G	ENSP00000432465.1:n.314+6231A>G
ENST00000375549.7:c.*272A>G	ENSP00000364699.3:n.*272A>G
ENST00000525291.5:c.*272A>G	ENSP00000436669.1:n.*272A>G
ENST00000525987.5:n.319+6231A>G
ENST00000528021.5:c.314+6231A>G	ENSP00000432465.1:n.314+6231A>G
ENST00000528048.5:c.*349A>G	ENSP00000436217.1:n.*349A>G
ENST00000531744.5:c.314+6231A>G	ENSP00000456957.1:n.314+6231A>G
ENST00000532699.1:c.314+6231A>G	ENSP00000456434.1:n.314+6231A>G
ENST00000534010.1:c.145+6231A>G
NM_001276503.1:c.*349A>G	NP_001263432.1:n.*349A>G
NM_001276504.1:c.*272A>G	NP_001263433.1:n.*272A>G
NM_001276506.1:c.*450A>G	NP_001263435.1:n.*450A>G
NM_003002.3:c.*272A>G	NP_002993.1:n.*272A>G
NR_077060.1:n.890A>G
NM_003002.4:c.*272A>G MANE Select	NP_002993.1:n.*272A>G
NM_001276503.2:c.*349A>G	NP_001263432.1:n.*349A>G
NM_001276504.2:c.*272A>G	NP_001263433.1:n.*272A>G
NM_001276506.2:c.*450A>G	NP_001263435.1:n.*450A>G
NR_077060.2:n.841A>G