Canonical Allele Identifier: CA8402347

Gene: COX10

Linked Data

• dbSNP Id: rs750384364
• ExAC: 17:14005449 A / G
• gnomAD v2: 17-14005449-A-G
• gnomAD v4: 17-14102132-A-G
• MyVariant Identifiers: chr17:g.14005449A>G (hg19) ; chr17:g.14102132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102132A>G , CM000679.2:g.14102132A>G	GRCh38
NC_000017.10:g.14005449A>G , CM000679.1:g.14005449A>G	GRCh37
NC_000017.9:g.13946174A>G	NCBI36
NG_008034.1:g.37731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.514A>G MANE Select	ENSP00000261643.3:p.Thr172Ala
ENST00000664217.1:c.514A>G	ENSP00000499396.1:p.Thr172Ala
ENST00000670279.1:c.514A>G	ENSP00000499450.1:p.Thr172Ala
ENST00000261643.7:c.514A>G	ENSP00000261643.3:p.Thr172Ala
ENST00000580561.1:c.*3A>G	ENSP00000462190.1:n.*3A>G
ENST00000581931.5:c.499+25076A>G	ENSP00000462512.1:n.499+25076A>G
NM_001303.3:c.514A>G	NP_001294.2:p.Thr172Ala
XM_005256458.1:c.514A>G	XP_005256515.1:p.Thr172Ala
XM_011523657.1:c.514A>G	XP_011521959.1:p.Thr172Ala
XM_011523658.1:c.48+25076A>G	XP_011521960.1:n.48+25076A>G
XR_933974.1:n.617A>G
XR_933975.1:n.617A>G
NM_001303.4:c.514A>G MANE Select	NP_001294.2:p.Thr172Ala