Canonical Allele Identifier: CA116411

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226985326G>A , CM000663.2:g.226985326G>A	GRCh38
NC_000001.10:g.227173027G>A , CM000663.1:g.227173027G>A	GRCh37
NC_000001.9:g.225239650G>A	NCBI36
NG_012825.1:g.50090G>A
NG_012825.2:g.92791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1645G>A MANE Select	ENSP00000355739.3:p.Gly549Ser
ENST00000366779.6:c.*6372G>A	ENSP00000355741.2:n.*6372G>A
ENST00000366777.3:c.1645G>A	ENSP00000355739.3:p.Gly549Ser
ENST00000366778.5:c.1489G>A	ENSP00000355740.1:p.Gly497Ser
ENST00000366779.5:c.1645G>A	ENSP00000355741.1:p.Gly549Ser
ENST00000478406.5:n.2507G>A
ENST00000479852.1:n.832G>A
ENST00000485462.5:n.1035G>A
NM_020247.4:c.1645G>A	NP_064632.2:p.Gly549Ser
XM_005273201.1:c.1645G>A	XP_005273258.1:p.Gly549Ser
XM_011544238.1:c.1645G>A	XP_011542540.1:p.Gly549Ser
XM_011544239.1:c.1645G>A	XP_011542541.1:p.Gly549Ser
XM_011544240.1:c.1645G>A	XP_011542542.1:p.Gly549Ser
XM_011544241.1:c.1645G>A	XP_011542543.1:p.Gly549Ser
XM_011544239.2:c.1645G>A	XP_011542541.1:p.Gly549Ser
XM_011544241.2:c.1645G>A	XP_011542543.1:p.Gly549Ser
XM_017001852.1:c.1645G>A	XP_016857341.1:p.Gly549Ser
XM_024448517.1:c.1645G>A	XP_024304285.1:p.Gly549Ser
XM_024448518.1:c.1645G>A	XP_024304286.1:p.Gly549Ser
NM_020247.5:c.1645G>A MANE Select	NP_064632.2:p.Gly549Ser