Canonical Allele Identifier: CA1225114557

Gene: COQ8A

Linked Data

• dbSNP Id: rs1658511577

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965546A>C , CM000663.2:g.226965546A>C	GRCh38
NC_000001.10:g.227153247A>C , CM000663.1:g.227153247A>C	GRCh37
NC_000001.9:g.225219870A>C	NCBI36
NG_012825.1:g.30310A>C
NG_012825.2:g.73011A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.589-125A>C MANE Select	ENSP00000355739.3:n.589-125A>C
ENST00000366779.6:c.*5316-125A>C	ENSP00000355741.2:n.*5316-125A>C
ENST00000676884.1:c.*5438-125A>C	ENSP00000503200.1:n.*5438-125A>C
ENST00000366777.3:c.589-125A>C	ENSP00000355739.3:n.589-125A>C
ENST00000366778.5:c.433-125A>C	ENSP00000355740.1:n.433-125A>C
ENST00000366779.5:c.589-125A>C	ENSP00000355741.1:n.589-125A>C
ENST00000478406.5:n.107-11903A>C
ENST00000489044.1:n.800-125A>C
NM_020247.4:c.589-125A>C	NP_064632.2:n.589-125A>C
XM_005273201.1:c.589-125A>C	XP_005273258.1:n.589-125A>C
XM_011544238.1:c.589-125A>C	XP_011542540.1:n.589-125A>C
XM_011544239.1:c.589-125A>C	XP_011542541.1:n.589-125A>C
XM_011544240.1:c.589-125A>C	XP_011542542.1:n.589-125A>C
XM_011544241.1:c.589-125A>C	XP_011542543.1:n.589-125A>C
XM_011544239.2:c.589-125A>C	XP_011542541.1:n.589-125A>C
XM_011544241.2:c.589-125A>C	XP_011542543.1:n.589-125A>C
XM_017001852.1:c.589-125A>C	XP_016857341.1:n.589-125A>C
XM_024448517.1:c.589-125A>C	XP_024304285.1:n.589-125A>C
XM_024448518.1:c.589-125A>C	XP_024304286.1:n.589-125A>C
NM_020247.5:c.589-125A>C MANE Select	NP_064632.2:n.589-125A>C