Canonical Allele Identifier: CA398248279
Gene: COX10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14076905G>T , CM000679.2:g.14076905G>T GRCh38
NC_000017.10:g.13980222G>T , CM000679.1:g.13980222G>T GRCh37
NC_000017.9:g.13920947G>T NCBI36
NG_008034.1:g.12504G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.348G>T MANE Select ENSP00000261643.3:p.Lys116Asn
ENST00000664217.1:c.348G>T ENSP00000499396.1:p.Lys116Asn
ENST00000670279.1:c.348G>T ENSP00000499450.1:p.Lys116Asn
ENST00000261643.7:c.348G>T ENSP00000261643.3:p.Lys116Asn
ENST00000429152.6:c.348G>T ENSP00000397750.2:p.Lys116Asn
ENST00000580561.1:c.177+2449G>T ENSP00000462190.1:n.177+2449G>T
ENST00000581931.5:c.348G>T ENSP00000462512.1:p.Lys116Asn
NM_001303.3:c.348G>T NP_001294.2:p.Lys116Asn
XM_005256458.1:c.348G>T XP_005256515.1:p.Lys116Asn
XM_011523657.1:c.348G>T XP_011521959.1:p.Lys116Asn
XM_011523658.1:c.-104G>T XP_011521960.1:n.-104G>T
XR_933974.1:n.451G>T
XR_933975.1:n.451G>T
NM_001303.4:c.348G>T MANE Select NP_001294.2:p.Lys116Asn