Canonical Allele Identifier: CA8402550

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14207074G>A , CM000679.2:g.14207074G>A	GRCh38
NC_000017.10:g.14110391G>A , CM000679.1:g.14110391G>A	GRCh37
NC_000017.9:g.14051116G>A	NCBI36
NG_008034.1:g.142673G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001303.4:c.1193G>A MANE Select	NP_001294.2:p.Arg398His
ENST00000261643.8:c.1193G>A MANE Select	ENSP00000261643.3:p.Arg398His
NM_001303.3:c.1193G>A	NP_001294.2:p.Arg398His
ENST00000261643.7:c.1193G>A	ENSP00000261643.3:p.Arg398His
ENST00000580561.1:c.*682G>A	ENSP00000462190.1:n.*682G>A
ENST00000581931.5:c.*561G>A	ENSP00000462512.1:n.*561G>A
ENST00000664217.1:c.1193G>A	ENSP00000499396.1:p.Arg398His
ENST00000670279.1:c.929-2435G>A	ENSP00000499450.1:n.929-2435G>A
XM_011523658.1:c.617G>A	XP_011521960.1:p.Arg206His
XR_933974.1:n.1032-2435G>A