Canonical Allele Identifier: CA2249010374
Community Standard Title: NM_001303.4(COX10):c.1007A= (p.Asp336=)
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14206888A= , CM000679.2:g.14206888A= GRCh38
NC_000017.10:g.14110205A= , CM000679.1:g.14110205A= GRCh37
NC_000017.9:g.14050930A= NCBI36
NG_008034.1:g.142487A=

Transcript Alleles

HGVS Amino-acid Change
NM_001303.4:c.1007A= MANE Select NP_001294.2:p.Asp336=
ENST00000261643.8:c.1007A= MANE Select ENSP00000261643.3:p.Asp336=
NM_001303.3:c.1007A= NP_001294.2:p.Asp336=
ENST00000261643.7:c.1007A= ENSP00000261643.3:p.Asp336=
ENST00000580561.1:c.*496A= ENSP00000462190.1:n.*496A=
ENST00000581931.5:c.*375A= ENSP00000462512.1:n.*375A=
ENST00000664217.1:c.1007A= ENSP00000499396.1:p.Asp336=
ENST00000670279.1:c.929-2621A= ENSP00000499450.1:n.929-2621A=
XM_011523657.1:c.*3A= XP_011521959.1:n.*3A=
XM_011523658.1:c.431A= XP_011521960.1:p.Asp144=
XR_933974.1:n.1032-2621A=