Canonical Allele Identifier: CA398248697

Gene: COX10

Linked Data

• MyVariant Identifiers: chr17:g.14005452A>C (hg19) ; chr17:g.14102135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102135A>C , CM000679.2:g.14102135A>C	GRCh38
NC_000017.10:g.14005452A>C , CM000679.1:g.14005452A>C	GRCh37
NC_000017.9:g.13946177A>C	NCBI36
NG_008034.1:g.37734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.517A>C MANE Select	ENSP00000261643.3:p.Thr173Pro
ENST00000664217.1:c.517A>C	ENSP00000499396.1:p.Thr173Pro
ENST00000670279.1:c.517A>C	ENSP00000499450.1:p.Thr173Pro
ENST00000261643.7:c.517A>C	ENSP00000261643.3:p.Thr173Pro
ENST00000580561.1:c.*6A>C	ENSP00000462190.1:n.*6A>C
ENST00000581931.5:c.499+25079A>C	ENSP00000462512.1:n.499+25079A>C
NM_001303.3:c.517A>C	NP_001294.2:p.Thr173Pro
XM_005256458.1:c.517A>C	XP_005256515.1:p.Thr173Pro
XM_011523657.1:c.517A>C	XP_011521959.1:p.Thr173Pro
XM_011523658.1:c.48+25079A>C	XP_011521960.1:n.48+25079A>C
XR_933974.1:n.620A>C
XR_933975.1:n.620A>C
NM_001303.4:c.517A>C MANE Select	NP_001294.2:p.Thr173Pro