Canonical Allele Identifier: CA345050148

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965159G>T , CM000663.2:g.226965159G>T	GRCh38
NC_000001.10:g.227152860G>T , CM000663.1:g.227152860G>T	GRCh37
NC_000001.9:g.225219483G>T	NCBI36
NG_012825.1:g.29923G>T
NG_012825.2:g.72624G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.337G>T MANE Select	ENSP00000355739.3:p.Glu113Ter
ENST00000366779.6:c.*5064G>T	ENSP00000355741.2:n.*5064G>T
ENST00000676884.1:c.*5186G>T	ENSP00000503200.1:n.*5186G>T
ENST00000366777.3:c.337G>T	ENSP00000355739.3:p.Glu113Ter
ENST00000366778.5:c.181G>T	ENSP00000355740.1:p.Glu61Ter
ENST00000366779.5:c.337G>T	ENSP00000355741.1:p.Glu113Ter
ENST00000478406.5:n.107-12290G>T
ENST00000489044.1:n.548G>T
NM_020247.4:c.337G>T	NP_064632.2:p.Glu113Ter
XM_005273201.1:c.337G>T	XP_005273258.1:p.Glu113Ter
XM_011544238.1:c.337G>T	XP_011542540.1:p.Glu113Ter
XM_011544239.1:c.337G>T	XP_011542541.1:p.Glu113Ter
XM_011544240.1:c.337G>T	XP_011542542.1:p.Glu113Ter
XM_011544241.1:c.337G>T	XP_011542543.1:p.Glu113Ter
XM_011544239.2:c.337G>T	XP_011542541.1:p.Glu113Ter
XM_011544241.2:c.337G>T	XP_011542543.1:p.Glu113Ter
XM_017001852.1:c.337G>T	XP_016857341.1:p.Glu113Ter
XM_024448517.1:c.337G>T	XP_024304285.1:p.Glu113Ter
XM_024448518.1:c.337G>T	XP_024304286.1:p.Glu113Ter
NM_020247.5:c.337G>T MANE Select	NP_064632.2:p.Glu113Ter