Canonical Allele Identifier: CA290457

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14192031G>A , CM000679.2:g.14192031G>A	GRCh38
NC_000017.10:g.14095348G>A , CM000679.1:g.14095348G>A	GRCh37
NC_000017.9:g.14036073G>A	NCBI36
NG_008034.1:g.127630G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001303.4:c.738G>A MANE Select	NP_001294.2:p.Pro246=
ENST00000261643.8:c.738G>A MANE Select	ENSP00000261643.3:p.Pro246=
NM_001303.3:c.738G>A	NP_001294.2:p.Pro246=
ENST00000261643.7:c.738G>A	ENSP00000261643.3:p.Pro246=
ENST00000580561.1:c.*227G>A	ENSP00000462190.1:n.*227G>A
ENST00000581931.5:c.*106G>A	ENSP00000462512.1:n.*106G>A
ENST00000664217.1:c.738G>A	ENSP00000499396.1:p.Pro246=
ENST00000670279.1:c.738G>A	ENSP00000499450.1:p.Pro246=
XM_011523657.1:c.696-14779G>A	XP_011521959.1:n.696-14779G>A
XM_011523658.1:c.162G>A	XP_011521960.1:p.Pro54=
XR_933974.1:n.841G>A