Canonical Allele Identifier: CA8402523

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14206951C>T , CM000679.2:g.14206951C>T	GRCh38
NC_000017.10:g.14110268C>T , CM000679.1:g.14110268C>T	GRCh37
NC_000017.9:g.14050993C>T	NCBI36
NG_008034.1:g.142550C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001303.4:c.1070C>T MANE Select	NP_001294.2:p.Ala357Val
ENST00000261643.8:c.1070C>T MANE Select	ENSP00000261643.3:p.Ala357Val
NM_001303.3:c.1070C>T	NP_001294.2:p.Ala357Val
ENST00000261643.7:c.1070C>T	ENSP00000261643.3:p.Ala357Val
ENST00000580561.1:c.*559C>T	ENSP00000462190.1:n.*559C>T
ENST00000581931.5:c.*438C>T	ENSP00000462512.1:n.*438C>T
ENST00000664217.1:c.1070C>T	ENSP00000499396.1:p.Ala357Val
ENST00000670279.1:c.929-2558C>T	ENSP00000499450.1:n.929-2558C>T
XM_011523658.1:c.494C>T	XP_011521960.1:p.Ala165Val
XR_933974.1:n.1032-2558C>T