Canonical Allele Identifier: CA2957424

Gene: COX18

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73058211C>T , CM000666.2:g.73058211C>T	GRCh38
NC_000004.11:g.73923928C>T , CM000666.1:g.73923928C>T	GRCh37
NC_000004.10:g.74142792C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001297732.2:c.908G>A MANE Select	NP_001284661.1:p.Arg303His
ENST00000507544.3:c.908G>A MANE Select	ENSP00000425261.3:p.Arg303His
NM_001297732.1:c.908G>A	NP_001284661.1:p.Arg303His
NM_001297733.1:c.452G>A	NP_001284662.1:p.Arg151His
NM_001297733.2:c.452G>A	NP_001284662.1:p.Arg151His
NM_001300729.1:c.914G>A	NP_001287658.1:p.Arg305His
NM_173827.3:c.905G>A	NP_776188.1:p.Arg302His
NM_173827.4:c.905G>A	NP_776188.1:p.Arg302His
ENST00000295890.8:c.905G>A	ENSP00000295890.4:p.Arg302His
ENST00000449739.6:c.*414G>A	ENSP00000394583.2:n.*414G>A
ENST00000507544.2:c.908G>A	ENSP00000425261.2:p.Arg303His
ENST00000510031.1:c.*525G>A	ENSP00000424978.1:n.*525G>A
XM_005265680.3:c.912G>A	XP_005265737.1:p.Ser304=
XM_005265680.5:c.912G>A	XP_005265737.1:p.Ser304=
XM_011531878.1:c.455G>A	XP_011530180.1:p.Arg152His
XM_011531878.3:c.455G>A	XP_011530180.1:p.Arg152His
XM_017008045.2:c.909G>A	XP_016863534.1:p.Ser303=
XR_001741209.2:n.1001G>A