Canonical Allele Identifier: CA398226931

Gene: COX10

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14207181G>C , CM000679.2:g.14207181G>C	GRCh38
NC_000017.10:g.14110498G>C , CM000679.1:g.14110498G>C	GRCh37
NC_000017.9:g.14051223G>C	NCBI36
NG_008034.1:g.142780G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001303.4:c.1300G>C MANE Select	NP_001294.2:p.Gly434Arg
ENST00000261643.8:c.1300G>C MANE Select	ENSP00000261643.3:p.Gly434Arg
NM_001303.3:c.1300G>C	NP_001294.2:p.Gly434Arg
ENST00000261643.7:c.1300G>C	ENSP00000261643.3:p.Gly434Arg
ENST00000580561.1:c.*789G>C	ENSP00000462190.1:n.*789G>C
ENST00000581931.5:c.*668G>C	ENSP00000462512.1:n.*668G>C
ENST00000664217.1:c.1300G>C	ENSP00000499396.1:p.Gly434Arg
ENST00000670279.1:c.929-2328G>C	ENSP00000499450.1:n.929-2328G>C
XM_011523658.1:c.724G>C	XP_011521960.1:p.Gly242Arg
XR_933974.1:n.1032-2328G>C