Canonical Allele Identifier: CA228556098

Gene: SDHD

Linked Data

• dbSNP Id: rs201475331
• gnomAD v2: 11-111966018-T-C
• gnomAD v3: 11-112095294-T-C
• gnomAD v4: 11-112095294-T-C
• MyVariant Identifiers: chr11:g.111966018T>C (hg19) ; chr11:g.112095294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095294T>C , CM000673.2:g.112095294T>C	GRCh38
NC_000011.9:g.111966018T>C , CM000673.1:g.111966018T>C	GRCh37
NC_000011.8:g.111471228T>C	NCBI36
NG_012337.2:g.13448T>C
NG_012337.3:g.13448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6283T>C	ENSP00000433202.2:n.314+6283T>C
ENST00000375549.8:c.*324T>C MANE Select	ENSP00000364699.3:n.*324T>C
ENST00000528021.6:c.314+6283T>C	ENSP00000432465.1:n.314+6283T>C
ENST00000375549.7:c.*324T>C	ENSP00000364699.3:n.*324T>C
ENST00000525291.5:c.*324T>C	ENSP00000436669.1:n.*324T>C
ENST00000525987.5:n.319+6283T>C
ENST00000528021.5:c.314+6283T>C	ENSP00000432465.1:n.314+6283T>C
ENST00000528048.5:c.*401T>C	ENSP00000436217.1:n.*401T>C
ENST00000531744.5:c.314+6283T>C	ENSP00000456957.1:n.314+6283T>C
ENST00000532699.1:c.314+6283T>C	ENSP00000456434.1:n.314+6283T>C
ENST00000534010.1:c.145+6283T>C
NM_001276503.1:c.*401T>C	NP_001263432.1:n.*401T>C
NM_001276504.1:c.*324T>C	NP_001263433.1:n.*324T>C
NM_001276506.1:c.*502T>C	NP_001263435.1:n.*502T>C
NM_003002.3:c.*324T>C	NP_002993.1:n.*324T>C
NR_077060.1:n.942T>C
NM_003002.4:c.*324T>C MANE Select	NP_002993.1:n.*324T>C
NM_001276503.2:c.*401T>C	NP_001263432.1:n.*401T>C
NM_001276504.2:c.*324T>C	NP_001263433.1:n.*324T>C
NM_001276506.2:c.*502T>C	NP_001263435.1:n.*502T>C
NR_077060.2:n.893T>C