Canonical Allele Identifier: CA343366141

Gene: SDHC

Linked Data

• gnomAD v4: 1-161340653-C-A
• MyVariant Identifiers: chr1:g.161310443C>A (hg19) ; chr1:g.161340653C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161340653C>A , CM000663.2:g.161340653C>A	GRCh38
NC_000001.10:g.161310443C>A , CM000663.1:g.161310443C>A	GRCh37
NC_000001.9:g.159577067C>A	NCBI36
NG_012767.1:g.31278C>A , LRG_317:g.31278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*240C>A	ENSP00000482902.2:n.*240C>A
ENST00000367975.7:c.239C>A MANE Select	ENSP00000356953.3:p.Ala80Glu
ENST00000342751.8:c.239C>A	ENSP00000356952.3:p.Ala80Glu
ENST00000367975.6:c.239C>A	ENSP00000356953.2:p.Ala80Glu
ENST00000392169.6:c.80C>A	ENSP00000376009.2:p.Ala27Glu
ENST00000432287.6:c.137C>A	ENSP00000390558.2:p.Ala46Glu
ENST00000470743.4:c.337C>A
ENST00000504963.5:c.*62C>A	ENSP00000423929.1:n.*62C>A
ENST00000513009.5:c.137C>A	ENSP00000423260.1:p.Ala46Glu
NM_001035511.1:c.239C>A	NP_001030588.1:p.Ala80Glu
NM_001035512.1:c.137C>A	NP_001030589.1:p.Ala46Glu
NM_001035513.1:c.80C>A	NP_001030590.1:p.Ala27Glu
NM_001278172.1:c.137C>A	NP_001265101.1:p.Ala46Glu
NM_003001.3:c.239C>A , LRG_317t1:c.239C>A	NP_002992.1:p.Ala80Glu
NR_103459.1:n.296C>A
NM_001035511.2:c.239C>A	NP_001030588.1:p.Ala80Glu
NM_001035512.2:c.137C>A	NP_001030589.1:p.Ala46Glu
NM_001035513.2:c.80C>A	NP_001030590.1:p.Ala27Glu
NM_001278172.2:c.137C>A	NP_001265101.1:p.Ala46Glu
NM_003001.5:c.239C>A MANE Select	NP_002992.1:p.Ala80Glu
NR_103459.2:n.291C>A