Canonical Allele Identifier: CA386580287

Gene: COQ5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120516680T>G , CM000674.2:g.120516680T>G	GRCh38
NC_000012.11:g.120954483T>G , CM000674.1:g.120954483T>G	GRCh37
NC_000012.10:g.119438866T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032314.4:c.461A>C MANE Select	NP_115690.3:p.Glu154Ala
ENST00000288532.11:c.461A>C MANE Select	ENSP00000288532.6:p.Glu154Ala
NM_032314.3:c.461A>C	NP_115690.3:p.Glu154Ala
ENST00000288532.10:c.461A>C	ENSP00000288532.6:p.Glu154Ala
ENST00000445328.6:c.352+5534A>C	ENSP00000401798.2:n.352+5534A>C
ENST00000546838.1:n.5A>C
ENST00000547943.5:c.311A>C	ENSP00000449874.1:p.Glu104Ala
ENST00000551769.1:c.218A>C	ENSP00000450001.1:p.Glu73Ala
ENST00000552443.5:c.218A>C	ENSP00000449863.1:p.Glu73Ala
XM_006719639.1:c.218A>C	XP_006719702.1:p.Glu73Ala
XM_006719639.2:c.218A>C	XP_006719702.1:p.Glu73Ala
XM_024449224.1:c.218A>C	XP_024304992.1:p.Glu73Ala