Canonical Allele Identifier: CA228556059

Gene: SDHD

Linked Data

• dbSNP Id: rs201621566
• gnomAD v3: 11-112095282-G-C
• gnomAD v4: 11-112095282-G-C
• MyVariant Identifiers: chr11:g.111966006G>C (hg19) ; chr11:g.112095282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095282G>C , CM000673.2:g.112095282G>C	GRCh38
NC_000011.9:g.111966006G>C , CM000673.1:g.111966006G>C	GRCh37
NC_000011.8:g.111471216G>C	NCBI36
NG_012337.2:g.13436G>C
NG_012337.3:g.13436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6271G>C	ENSP00000433202.2:n.314+6271G>C
ENST00000375549.8:c.*312G>C MANE Select	ENSP00000364699.3:n.*312G>C
ENST00000528021.6:c.314+6271G>C	ENSP00000432465.1:n.314+6271G>C
ENST00000375549.7:c.*312G>C	ENSP00000364699.3:n.*312G>C
ENST00000525291.5:c.*312G>C	ENSP00000436669.1:n.*312G>C
ENST00000525987.5:n.319+6271G>C
ENST00000528021.5:c.314+6271G>C	ENSP00000432465.1:n.314+6271G>C
ENST00000528048.5:c.*389G>C	ENSP00000436217.1:n.*389G>C
ENST00000531744.5:c.314+6271G>C	ENSP00000456957.1:n.314+6271G>C
ENST00000532699.1:c.314+6271G>C	ENSP00000456434.1:n.314+6271G>C
ENST00000534010.1:c.145+6271G>C
NM_001276503.1:c.*389G>C	NP_001263432.1:n.*389G>C
NM_001276504.1:c.*312G>C	NP_001263433.1:n.*312G>C
NM_001276506.1:c.*490G>C	NP_001263435.1:n.*490G>C
NM_003002.3:c.*312G>C	NP_002993.1:n.*312G>C
NR_077060.1:n.930G>C
NM_003002.4:c.*312G>C MANE Select	NP_002993.1:n.*312G>C
NM_001276503.2:c.*389G>C	NP_001263432.1:n.*389G>C
NM_001276504.2:c.*312G>C	NP_001263433.1:n.*312G>C
NM_001276506.2:c.*490G>C	NP_001263435.1:n.*490G>C
NR_077060.2:n.881G>C