Canonical Allele Identifier: CA8076147

Gene: COQ9

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57452863G>A , CM000678.2:g.57452863G>A	GRCh38
NC_000016.9:g.57486775G>A , CM000678.1:g.57486775G>A	GRCh37
NC_000016.8:g.56044276G>A	NCBI36
NG_027696.1:g.10439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020312.4:c.305G>A MANE Select	NP_064708.1:p.Arg102His
ENST00000262507.11:c.305G>A MANE Select	ENSP00000262507.5:p.Arg102His
NM_020312.3:c.305G>A	NP_064708.1:p.Arg102His
ENST00000262507.10:c.305G>A	ENSP00000262507.5:p.Arg102His
ENST00000562426.5:n.308G>A
ENST00000562734.5:n.329G>A
ENST00000563166.1:c.251G>A	ENSP00000455495.1:p.Arg84His
ENST00000563391.1:c.-104G>A	ENSP00000455516.1:n.-104G>A
ENST00000564115.5:c.305G>A	ENSP00000455256.1:p.Arg102His
ENST00000564655.5:c.317G>A	ENSP00000454992.1:p.Arg106His
ENST00000565964.5:c.305G>A	ENSP00000458023.1:p.Arg102His
ENST00000566388.5:n.386G>A
ENST00000567072.5:c.305G>A	ENSP00000456728.1:p.Arg102His
ENST00000567480.1:n.235G>A
ENST00000567933.5:c.305G>A	ENSP00000456174.1:p.Arg102His
ENST00000568790.5:n.329G>A