Canonical Allele Identifier: CA2248965723
Community Standard Title: NM_001303.4(COX10):c.445C= (p.Gln149=)
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14077002C= , CM000679.2:g.14077002C= GRCh38
NC_000017.10:g.13980319C= , CM000679.1:g.13980319C= GRCh37
NC_000017.9:g.13921044C= NCBI36
NG_008034.1:g.12601C=

Transcript Alleles

HGVS Amino-acid Change
NM_001303.4:c.445C= MANE Select NP_001294.2:p.Gln149=
ENST00000261643.8:c.445C= MANE Select ENSP00000261643.3:p.Gln149=
NM_001303.3:c.445C= NP_001294.2:p.Gln149=
ENST00000261643.7:c.445C= ENSP00000261643.3:p.Gln149=
ENST00000429152.6:c.445C= ENSP00000397750.2:p.Gln149=
ENST00000580561.1:c.177+2546C= ENSP00000462190.1:n.177+2546C=
ENST00000581931.5:c.445C= ENSP00000462512.1:p.Gln149=
ENST00000664217.1:c.445C= ENSP00000499396.1:p.Gln149=
ENST00000670279.1:c.445C= ENSP00000499450.1:p.Gln149=
XM_005256458.1:c.445C= XP_005256515.1:p.Gln149=
XM_011523657.1:c.445C= XP_011521959.1:p.Gln149=
XM_011523658.1:c.-7C= XP_011521960.1:n.-7C=
XR_933974.1:n.548C=
XR_933975.1:n.548C=