Canonical Allele Identifier: CA398248755

Gene: COX10

Linked Data

• MyVariant Identifiers: chr17:g.14005483C>A (hg19) ; chr17:g.14102166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102166C>A , CM000679.2:g.14102166C>A	GRCh38
NC_000017.10:g.14005483C>A , CM000679.1:g.14005483C>A	GRCh37
NC_000017.9:g.13946208C>A	NCBI36
NG_008034.1:g.37765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.548C>A MANE Select	ENSP00000261643.3:p.Pro183His
ENST00000664217.1:c.548C>A	ENSP00000499396.1:p.Pro183His
ENST00000670279.1:c.548C>A	ENSP00000499450.1:p.Pro183His
ENST00000261643.7:c.548C>A	ENSP00000261643.3:p.Pro183His
ENST00000580561.1:c.*37C>A	ENSP00000462190.1:n.*37C>A
ENST00000581931.5:c.499+25110C>A	ENSP00000462512.1:n.499+25110C>A
NM_001303.3:c.548C>A	NP_001294.2:p.Pro183His
XM_005256458.1:c.548C>A	XP_005256515.1:p.Pro183His
XM_011523657.1:c.548C>A	XP_011521959.1:p.Pro183His
XM_011523658.1:c.48+25110C>A	XP_011521960.1:n.48+25110C>A
XR_933974.1:n.651C>A
XR_933975.1:n.651C>A
NM_001303.4:c.548C>A MANE Select	NP_001294.2:p.Pro183His