Canonical Allele Identifier: CA228556139

Gene: SDHD

Linked Data

• dbSNP Id: rs1042066420
• gnomAD v3: 11-112095311-T-C
• gnomAD v4: 11-112095311-T-C
• MyVariant Identifiers: chr11:g.111966035T>C (hg19) ; chr11:g.112095311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095311T>C , CM000673.2:g.112095311T>C	GRCh38
NC_000011.9:g.111966035T>C , CM000673.1:g.111966035T>C	GRCh37
NC_000011.8:g.111471245T>C	NCBI36
NG_012337.2:g.13465T>C
NG_012337.3:g.13465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6300T>C	ENSP00000433202.2:n.314+6300T>C
ENST00000375549.8:c.*341T>C MANE Select	ENSP00000364699.3:n.*341T>C
ENST00000528021.6:c.314+6300T>C	ENSP00000432465.1:n.314+6300T>C
ENST00000375549.7:c.*341T>C	ENSP00000364699.3:n.*341T>C
ENST00000525291.5:c.*341T>C	ENSP00000436669.1:n.*341T>C
ENST00000525987.5:n.319+6300T>C
ENST00000528021.5:c.314+6300T>C	ENSP00000432465.1:n.314+6300T>C
ENST00000528048.5:c.*418T>C	ENSP00000436217.1:n.*418T>C
ENST00000531744.5:c.314+6300T>C	ENSP00000456957.1:n.314+6300T>C
ENST00000532699.1:c.314+6300T>C	ENSP00000456434.1:n.314+6300T>C
ENST00000534010.1:c.145+6300T>C
NM_001276503.1:c.*418T>C	NP_001263432.1:n.*418T>C
NM_001276504.1:c.*341T>C	NP_001263433.1:n.*341T>C
NM_001276506.1:c.*519T>C	NP_001263435.1:n.*519T>C
NM_003002.3:c.*341T>C	NP_002993.1:n.*341T>C
NR_077060.1:n.959T>C
NM_003002.4:c.*341T>C MANE Select	NP_002993.1:n.*341T>C
NM_001276503.2:c.*418T>C	NP_001263432.1:n.*418T>C
NM_001276504.2:c.*341T>C	NP_001263433.1:n.*341T>C
NM_001276506.2:c.*519T>C	NP_001263435.1:n.*519T>C
NR_077060.2:n.910T>C