Canonical Allele Identifier: CA343457516

Gene: SDHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161362329A>C , CM000663.2:g.161362329A>C	GRCh38
NC_000001.10:g.161332119A>C , CM000663.1:g.161332119A>C	GRCh37
NC_000001.9:g.159598743A>C	NCBI36
NG_012767.1:g.52954A>C , LRG_317:g.52954A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003001.5:c.406A>C MANE Select	NP_002992.1:p.Met136Leu
ENST00000367975.7:c.406A>C MANE Select	ENSP00000356953.3:p.Met136Leu
NM_001035511.1:c.242A>C	NP_001030588.1:p.Asp81Ala
NM_001035511.2:c.242A>C	NP_001030588.1:p.Asp81Ala
NM_001035512.1:c.304A>C	NP_001030589.1:p.Met102Leu
NM_001035512.2:c.304A>C	NP_001030589.1:p.Met102Leu
NM_001035513.1:c.247A>C	NP_001030590.1:p.Met83Leu
NM_001035513.2:c.247A>C	NP_001030590.1:p.Met83Leu
NM_001278172.1:c.140A>C	NP_001265101.1:p.Asp47Ala
NM_001278172.2:c.140A>C	NP_001265101.1:p.Asp47Ala
NM_003001.3:c.406A>C , LRG_317t1:c.406A>C	NP_002992.1:p.Met136Leu
NR_103459.1:n.463A>C
NR_103459.2:n.458A>C
ENST00000342751.8:c.242A>C	ENSP00000356952.3:p.Asp81Ala
ENST00000367975.6:c.406A>C	ENSP00000356953.2:p.Met136Leu
ENST00000392169.6:c.247A>C	ENSP00000376009.2:p.Met83Leu
ENST00000432287.6:c.304A>C	ENSP00000390558.2:p.Met102Leu
ENST00000470743.4:c.504A>C
ENST00000470743.5:c.*407A>C	ENSP00000482902.2:n.*407A>C
ENST00000504963.5:c.*229A>C	ENSP00000423929.1:n.*229A>C
ENST00000513009.5:c.140A>C	ENSP00000423260.1:p.Asp47Ala