Canonical Allele Identifier: CA398248763
Gene: COX10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14102169T>C , CM000679.2:g.14102169T>C GRCh38
NC_000017.10:g.14005486T>C , CM000679.1:g.14005486T>C GRCh37
NC_000017.9:g.13946211T>C NCBI36
NG_008034.1:g.37768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.551T>C MANE Select ENSP00000261643.3:p.Phe184Ser
ENST00000664217.1:c.551T>C ENSP00000499396.1:p.Phe184Ser
ENST00000670279.1:c.551T>C ENSP00000499450.1:p.Phe184Ser
ENST00000261643.7:c.551T>C ENSP00000261643.3:p.Phe184Ser
ENST00000580561.1:c.*40T>C ENSP00000462190.1:n.*40T>C
ENST00000581931.5:c.499+25113T>C ENSP00000462512.1:n.499+25113T>C
NM_001303.3:c.551T>C NP_001294.2:p.Phe184Ser
XM_005256458.1:c.551T>C XP_005256515.1:p.Phe184Ser
XM_011523657.1:c.551T>C XP_011521959.1:p.Phe184Ser
XM_011523658.1:c.48+25113T>C XP_011521960.1:n.48+25113T>C
XR_933974.1:n.654T>C
XR_933975.1:n.654T>C
NM_001303.4:c.551T>C MANE Select NP_001294.2:p.Phe184Ser