Canonical Allele Identifier: CA322409

Gene: COQ9

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57452920T>C , CM000678.2:g.57452920T>C	GRCh38
NC_000016.9:g.57486832T>C , CM000678.1:g.57486832T>C	GRCh37
NC_000016.8:g.56044333T>C	NCBI36
NG_027696.1:g.10496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262507.11:c.362T>C MANE Select	ENSP00000262507.5:p.Ile121Thr
ENST00000262507.10:c.362T>C	ENSP00000262507.5:p.Ile121Thr
ENST00000562426.5:n.365T>C
ENST00000562734.5:n.386T>C
ENST00000563166.1:c.303+5T>C	ENSP00000455495.1:n.303+5T>C
ENST00000563391.1:c.-47T>C	ENSP00000455516.1:n.-47T>C
ENST00000564115.5:c.362T>C	ENSP00000455256.1:p.Ile121Thr
ENST00000564655.5:c.374T>C	ENSP00000454992.1:p.Ile125Thr
ENST00000565964.5:c.362T>C	ENSP00000458023.1:p.Ile121Thr
ENST00000566388.5:n.443T>C
ENST00000567072.5:c.362T>C	ENSP00000456728.1:p.Ile121Thr
ENST00000567480.1:n.292T>C
ENST00000567933.5:c.362T>C	ENSP00000456174.1:p.Ile121Thr
ENST00000568790.5:n.386T>C
NM_020312.3:c.362T>C	NP_064708.1:p.Ile121Thr
NM_020312.4:c.362T>C MANE Select	NP_064708.1:p.Ile121Thr