Canonical Allele Identifier: CA1148257457

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984930C= , CM000663.2:g.226984930C=	GRCh38
NC_000001.10:g.227172631C= , CM000663.1:g.227172631C=	GRCh37
NC_000001.9:g.225239254C=	NCBI36
NG_012825.1:g.49694C=
NG_012825.2:g.92395C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1561C= MANE Select	ENSP00000355739.3:p.Leu521=
ENST00000366779.6:c.*6288C=	ENSP00000355741.2:n.*6288C=
ENST00000366777.3:c.1561C=	ENSP00000355739.3:p.Leu521=
ENST00000366778.5:c.1405C=	ENSP00000355740.1:p.Leu469=
ENST00000366779.5:c.1561C=	ENSP00000355741.1:p.Leu521=
ENST00000478406.5:n.2423C=
ENST00000479852.1:n.748C=
ENST00000485462.5:n.951C=
NM_020247.4:c.1561C=	NP_064632.2:p.Leu521=
XM_005273201.1:c.1561C=	XP_005273258.1:p.Leu521=
XM_011544238.1:c.1561C=	XP_011542540.1:p.Leu521=
XM_011544239.1:c.1561C=	XP_011542541.1:p.Leu521=
XM_011544240.1:c.1561C=	XP_011542542.1:p.Leu521=
XM_011544241.1:c.1561C=	XP_011542543.1:p.Leu521=
XM_011544239.2:c.1561C=	XP_011542541.1:p.Leu521=
XM_011544241.2:c.1561C=	XP_011542543.1:p.Leu521=
XM_017001852.1:c.1561C=	XP_016857341.1:p.Leu521=
XM_024448517.1:c.1561C=	XP_024304285.1:p.Leu521=
XM_024448518.1:c.1561C=	XP_024304286.1:p.Leu521=
NM_020247.5:c.1561C= MANE Select	NP_064632.2:p.Leu521=