Canonical Allele Identifier: CA398248896

Gene: COX10

Linked Data

• dbSNP Id: rs1431965802
• MyVariant Identifiers: chr17:g.14005551A>G (hg19) ; chr17:g.14102234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102234A>G , CM000679.2:g.14102234A>G	GRCh38
NC_000017.10:g.14005551A>G , CM000679.1:g.14005551A>G	GRCh37
NC_000017.9:g.13946276A>G	NCBI36
NG_008034.1:g.37833A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.616A>G MANE Select	ENSP00000261643.3:p.Ile206Val
ENST00000664217.1:c.616A>G	ENSP00000499396.1:p.Ile206Val
ENST00000670279.1:c.616A>G	ENSP00000499450.1:p.Ile206Val
ENST00000261643.7:c.616A>G	ENSP00000261643.3:p.Ile206Val
ENST00000580561.1:c.*105A>G	ENSP00000462190.1:n.*105A>G
ENST00000581931.5:c.499+25178A>G	ENSP00000462512.1:n.499+25178A>G
NM_001303.3:c.616A>G	NP_001294.2:p.Ile206Val
XM_005256458.1:c.616A>G	XP_005256515.1:p.Ile206Val
XM_011523657.1:c.616A>G	XP_011521959.1:p.Ile206Val
XM_011523658.1:c.48+25178A>G	XP_011521960.1:n.48+25178A>G
XR_933974.1:n.719A>G
XR_933975.1:n.719A>G
NM_001303.4:c.616A>G MANE Select	NP_001294.2:p.Ile206Val