Canonical Allele Identifier: CA324377

Gene: COQ9

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57456568A>C , CM000678.2:g.57456568A>C	GRCh38
NC_000016.9:g.57490480A>C , CM000678.1:g.57490480A>C	GRCh37
NC_000016.8:g.56047981A>C	NCBI36
NG_027696.1:g.14144A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262507.11:c.443A>C MANE Select	ENSP00000262507.5:p.His148Pro
ENST00000262507.10:c.443A>C	ENSP00000262507.5:p.His148Pro
ENST00000562426.5:n.446A>C
ENST00000562734.5:n.467A>C
ENST00000563166.1:c.303+3653A>C	ENSP00000455495.1:n.303+3653A>C
ENST00000563391.1:c.35A>C	ENSP00000455516.1:p.His12Pro
ENST00000564115.5:c.443A>C	ENSP00000455256.1:p.His148Pro
ENST00000564655.5:c.455A>C	ENSP00000454992.1:p.His152Pro
ENST00000565964.5:c.379-1678A>C	ENSP00000458023.1:n.379-1678A>C
ENST00000567072.5:c.443A>C	ENSP00000456728.1:p.His148Pro
ENST00000567480.1:n.383A>C
ENST00000567576.1:n.166A>C
ENST00000567933.5:c.379-2997A>C	ENSP00000456174.1:n.379-2997A>C
ENST00000568790.5:n.467A>C
NM_020312.3:c.443A>C	NP_064708.1:p.His148Pro
NM_020312.4:c.443A>C MANE Select	NP_064708.1:p.His148Pro