Canonical Allele Identifier: CA345050780

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965719C>G , CM000663.2:g.226965719C>G	GRCh38
NC_000001.10:g.227153420C>G , CM000663.1:g.227153420C>G	GRCh37
NC_000001.9:g.225220043C>G	NCBI36
NG_012825.1:g.30483C>G
NG_012825.2:g.73184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.637C>G MANE Select	ENSP00000355739.3:p.Arg213Gly
ENST00000366779.6:c.*5364C>G	ENSP00000355741.2:n.*5364C>G
ENST00000676884.1:c.*5486C>G	ENSP00000503200.1:n.*5486C>G
ENST00000366777.3:c.637C>G	ENSP00000355739.3:p.Arg213Gly
ENST00000366778.5:c.481C>G	ENSP00000355740.1:p.Arg161Gly
ENST00000366779.5:c.637C>G	ENSP00000355741.1:p.Arg213Gly
ENST00000478406.5:n.107-11730C>G
ENST00000489044.1:n.848C>G
NM_020247.4:c.637C>G	NP_064632.2:p.Arg213Gly
XM_005273201.1:c.637C>G	XP_005273258.1:p.Arg213Gly
XM_011544238.1:c.637C>G	XP_011542540.1:p.Arg213Gly
XM_011544239.1:c.637C>G	XP_011542541.1:p.Arg213Gly
XM_011544240.1:c.637C>G	XP_011542542.1:p.Arg213Gly
XM_011544241.1:c.637C>G	XP_011542543.1:p.Arg213Gly
XM_011544239.2:c.637C>G	XP_011542541.1:p.Arg213Gly
XM_011544241.2:c.637C>G	XP_011542543.1:p.Arg213Gly
XM_017001852.1:c.637C>G	XP_016857341.1:p.Arg213Gly
XM_024448517.1:c.637C>G	XP_024304285.1:p.Arg213Gly
XM_024448518.1:c.637C>G	XP_024304286.1:p.Arg213Gly
NM_020247.5:c.637C>G MANE Select	NP_064632.2:p.Arg213Gly