Canonical Allele Identifier: CA357199337

Gene: COX18

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73069334G>T , CM000666.2:g.73069334G>T	GRCh38
NC_000004.11:g.73935051G>T , CM000666.1:g.73935051G>T	GRCh37
NC_000004.10:g.74153915G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507544.3:c.316C>A MANE Select	ENSP00000425261.3:p.His106Asn
ENST00000295890.8:c.316C>A	ENSP00000295890.4:p.His106Asn
ENST00000421792.2:n.422C>A
ENST00000449739.6:c.316C>A	ENSP00000394583.2:p.His106Asn
ENST00000507544.2:c.316C>A	ENSP00000425261.2:p.His106Asn
ENST00000510031.1:c.316C>A	ENSP00000424978.1:p.His106Asn
NM_001297732.1:c.316C>A	NP_001284661.1:p.His106Asn
NM_001297733.1:c.-142C>A	NP_001284662.1:n.-142C>A
NM_001300729.1:c.426C>A	NP_001287658.1:p.Ser142Arg
NM_173827.3:c.316C>A	NP_776188.1:p.His106Asn
XM_005265680.3:c.316C>A	XP_005265737.1:p.His106Asn
XM_011531878.1:c.-142C>A	XP_011530180.1:n.-142C>A
XM_005265680.5:c.316C>A	XP_005265737.1:p.His106Asn
XM_011531878.3:c.-142C>A	XP_011530180.1:n.-142C>A
XM_017008045.2:c.316C>A	XP_016863534.1:p.His106Asn
XR_001741209.2:n.426C>A
XR_002959725.1:n.444C>A
NM_001297732.2:c.316C>A MANE Select	NP_001284661.1:p.His106Asn
NM_001297733.2:c.-142C>A	NP_001284662.1:n.-142C>A
NM_173827.4:c.316C>A	NP_776188.1:p.His106Asn