Canonical Allele Identifier: CA321455

Gene: COQ9

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57459702G>A , CM000678.2:g.57459702G>A	GRCh38
NC_000016.9:g.57493614G>A , CM000678.1:g.57493614G>A	GRCh37
NC_000016.8:g.56051115G>A	NCBI36
NG_027696.1:g.17278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262507.11:c.849G>A MANE Select	ENSP00000262507.5:p.Met283Ile
ENST00000262507.10:c.849G>A	ENSP00000262507.5:p.Met283Ile
ENST00000563166.1:c.304-1470G>A	ENSP00000455495.1:n.304-1470G>A
ENST00000564115.5:c.*197G>A	ENSP00000455256.1:n.*197G>A
ENST00000564655.5:c.861G>A	ENSP00000454992.1:p.Met287Ile
ENST00000567072.5:c.744G>A	ENSP00000456728.1:p.Met248Ile
ENST00000567933.5:c.516G>A	ENSP00000456174.1:p.Met172Ile
ENST00000569980.1:n.364G>A
NM_020312.3:c.849G>A	NP_064708.1:p.Met283Ile
NM_020312.4:c.849G>A MANE Select	NP_064708.1:p.Met283Ile