Canonical Allele Identifier: CA2249010485
Community Standard Title: NM_001303.4(COX10):c.1225C= (p.Arg409=)
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14207106C= , CM000679.2:g.14207106C= GRCh38
NC_000017.10:g.14110423C= , CM000679.1:g.14110423C= GRCh37
NC_000017.9:g.14051148C= NCBI36
NG_008034.1:g.142705C=

Transcript Alleles

HGVS Amino-acid Change
NM_001303.4:c.1225C= MANE Select NP_001294.2:p.Arg409=
ENST00000261643.8:c.1225C= MANE Select ENSP00000261643.3:p.Arg409=
NM_001303.3:c.1225C= NP_001294.2:p.Arg409=
ENST00000261643.7:c.1225C= ENSP00000261643.3:p.Arg409=
ENST00000580561.1:c.*714C= ENSP00000462190.1:n.*714C=
ENST00000581931.5:c.*593C= ENSP00000462512.1:n.*593C=
ENST00000664217.1:c.1225C= ENSP00000499396.1:p.Arg409=
ENST00000670279.1:c.929-2403C= ENSP00000499450.1:n.929-2403C=
XM_011523658.1:c.649C= XP_011521960.1:p.Arg217=
XR_933974.1:n.1032-2403C=