Canonical Allele Identifier: CA1225123927

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983790C= , CM000663.2:g.226983790C=	GRCh38
NC_000001.10:g.227171491C= , CM000663.1:g.227171491C=	GRCh37
NC_000001.9:g.225238114C=	NCBI36
NG_012825.1:g.48554C=
NG_012825.2:g.91255C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1192C= MANE Select	ENSP00000355739.3:p.Leu398=
ENST00000366779.6:c.*5919C=	ENSP00000355741.2:n.*5919C=
ENST00000676884.1:c.*6041C=	ENSP00000503200.1:n.*6041C=
ENST00000366777.3:c.1192C=	ENSP00000355739.3:p.Leu398=
ENST00000366778.5:c.1036C=	ENSP00000355740.1:p.Leu346=
ENST00000366779.5:c.1192C=	ENSP00000355741.1:p.Leu398=
ENST00000478406.5:n.1815C=
ENST00000479852.1:n.140C=
ENST00000485462.5:n.582C=
NM_020247.4:c.1192C=	NP_064632.2:p.Leu398=
XM_005273201.1:c.1192C=	XP_005273258.1:p.Leu398=
XM_011544238.1:c.1192C=	XP_011542540.1:p.Leu398=
XM_011544239.1:c.1192C=	XP_011542541.1:p.Leu398=
XM_011544240.1:c.1192C=	XP_011542542.1:p.Leu398=
XM_011544241.1:c.1192C=	XP_011542543.1:p.Leu398=
XM_011544239.2:c.1192C=	XP_011542541.1:p.Leu398=
XM_011544241.2:c.1192C=	XP_011542543.1:p.Leu398=
XM_017001852.1:c.1192C=	XP_016857341.1:p.Leu398=
XM_024448517.1:c.1192C=	XP_024304285.1:p.Leu398=
XM_024448518.1:c.1192C=	XP_024304286.1:p.Leu398=
NM_020247.5:c.1192C= MANE Select	NP_064632.2:p.Leu398=