Canonical Allele Identifier: CA1425092

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226977413C>T , CM000663.2:g.226977413C>T	GRCh38
NC_000001.10:g.227165114C>T , CM000663.1:g.227165114C>T	GRCh37
NC_000001.9:g.225231737C>T	NCBI36
NG_012825.1:g.42177C>T
NG_012825.2:g.84878C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020247.5:c.656-36C>T MANE Select	NP_064632.2:n.656-36C>T
ENST00000366777.4:c.656-36C>T MANE Select	ENSP00000355739.3:n.656-36C>T
NM_020247.4:c.656-36C>T	NP_064632.2:n.656-36C>T
ENST00000366777.3:c.656-36C>T	ENSP00000355739.3:n.656-36C>T
ENST00000366778.5:c.500-36C>T	ENSP00000355740.1:n.500-36C>T
ENST00000366779.5:c.656-36C>T	ENSP00000355741.1:n.656-36C>T
ENST00000366779.6:c.*5383-36C>T	ENSP00000355741.2:n.*5383-36C>T
ENST00000476488.1:n.226-36C>T
ENST00000478406.5:n.107-36C>T
ENST00000485462.5:n.10C>T
ENST00000489044.1:n.867-36C>T
ENST00000676884.1:c.*5505-36C>T	ENSP00000503200.1:n.*5505-36C>T
XM_005273201.1:c.656-36C>T	XP_005273258.1:n.656-36C>T
XM_011544238.1:c.656-36C>T	XP_011542540.1:n.656-36C>T
XM_011544239.1:c.656-36C>T	XP_011542541.1:n.656-36C>T
XM_011544239.2:c.656-36C>T	XP_011542541.1:n.656-36C>T
XM_011544240.1:c.656-36C>T	XP_011542542.1:n.656-36C>T
XM_011544241.1:c.656-36C>T	XP_011542543.1:n.656-36C>T
XM_011544241.2:c.656-36C>T	XP_011542543.1:n.656-36C>T
XM_011544346.1:c.*802C>T	XP_011542648.1:n.*802C>T
XM_011544346.3:c.*802C>T	XP_011542648.1:n.*802C>T
XM_017001852.1:c.656-36C>T	XP_016857341.1:n.656-36C>T
XM_024448517.1:c.656-36C>T	XP_024304285.1:n.656-36C>T
XM_024448518.1:c.656-36C>T	XP_024304286.1:n.656-36C>T