Canonical Allele Identifier: CA398248676

Gene: COX10

Linked Data

• MyVariant Identifiers: chr17:g.14005441T>C (hg19) ; chr17:g.14102124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102124T>C , CM000679.2:g.14102124T>C	GRCh38
NC_000017.10:g.14005441T>C , CM000679.1:g.14005441T>C	GRCh37
NC_000017.9:g.13946166T>C	NCBI36
NG_008034.1:g.37723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.506T>C MANE Select	ENSP00000261643.3:p.Val169Ala
ENST00000664217.1:c.506T>C	ENSP00000499396.1:p.Val169Ala
ENST00000670279.1:c.506T>C	ENSP00000499450.1:p.Val169Ala
ENST00000261643.7:c.506T>C	ENSP00000261643.3:p.Val169Ala
ENST00000580561.1:c.184T>C	ENSP00000462190.1:p.Leu62=
ENST00000581931.5:c.499+25068T>C	ENSP00000462512.1:n.499+25068T>C
NM_001303.3:c.506T>C	NP_001294.2:p.Val169Ala
XM_005256458.1:c.506T>C	XP_005256515.1:p.Val169Ala
XM_011523657.1:c.506T>C	XP_011521959.1:p.Val169Ala
XM_011523658.1:c.48+25068T>C	XP_011521960.1:n.48+25068T>C
XR_933974.1:n.609T>C
XR_933975.1:n.609T>C
NM_001303.4:c.506T>C MANE Select	NP_001294.2:p.Val169Ala