Canonical Allele Identifier: CA398248702

Gene: COX10

Linked Data

• ClinVar Variation Id: 1370660
• ClinVar RCV Id: RCV001864339 ; RCV002482574
• dbSNP Id: rs2142200228
• gnomAD v4: 17-14102138-G-A
• MyVariant Identifiers: chr17:g.14005455G>A (hg19) ; chr17:g.14102138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102138G>A , CM000679.2:g.14102138G>A	GRCh38
NC_000017.10:g.14005455G>A , CM000679.1:g.14005455G>A	GRCh37
NC_000017.9:g.13946180G>A	NCBI36
NG_008034.1:g.37737G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.520G>A MANE Select	ENSP00000261643.3:p.Ala174Thr
ENST00000664217.1:c.520G>A	ENSP00000499396.1:p.Ala174Thr
ENST00000670279.1:c.520G>A	ENSP00000499450.1:p.Ala174Thr
ENST00000261643.7:c.520G>A	ENSP00000261643.3:p.Ala174Thr
ENST00000580561.1:c.*9G>A	ENSP00000462190.1:n.*9G>A
ENST00000581931.5:c.499+25082G>A	ENSP00000462512.1:n.499+25082G>A
NM_001303.3:c.520G>A	NP_001294.2:p.Ala174Thr
XM_005256458.1:c.520G>A	XP_005256515.1:p.Ala174Thr
XM_011523657.1:c.520G>A	XP_011521959.1:p.Ala174Thr
XM_011523658.1:c.48+25082G>A	XP_011521960.1:n.48+25082G>A
XR_933974.1:n.623G>A
XR_933975.1:n.623G>A
NM_001303.4:c.520G>A MANE Select	NP_001294.2:p.Ala174Thr