Canonical Allele Identifier: CA8402607
Community Standard Title: NM_001303.4(COX10):c.1305C>T (p.Gly435=)
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14207186C>T , CM000679.2:g.14207186C>T GRCh38
NC_000017.10:g.14110503C>T , CM000679.1:g.14110503C>T GRCh37
NC_000017.9:g.14051228C>T NCBI36
NG_008034.1:g.142785C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303.4:c.1305C>T MANE Select NP_001294.2:p.Gly435=
ENST00000261643.8:c.1305C>T MANE Select ENSP00000261643.3:p.Gly435=
NM_001303.3:c.1305C>T NP_001294.2:p.Gly435=
ENST00000261643.7:c.1305C>T ENSP00000261643.3:p.Gly435=
ENST00000580561.1:c.*794C>T ENSP00000462190.1:n.*794C>T
ENST00000581931.5:c.*673C>T ENSP00000462512.1:n.*673C>T
ENST00000664217.1:c.1305C>T ENSP00000499396.1:p.Gly435=
ENST00000670279.1:c.929-2323C>T ENSP00000499450.1:n.929-2323C>T
XM_011523658.1:c.729C>T XP_011521960.1:p.Gly243=
XR_933974.1:n.1032-2323C>T