Canonical Allele Identifier: CA2636210017
Gene: COX10 HGNC NCBI

Linked Data

gnomAD v4: 17-14208505-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208505C>A , CM000679.2:g.14208505C>A GRCh38
NC_000017.10:g.14111822C>A , CM000679.1:g.14111822C>A GRCh37
NC_000017.9:g.14052547C>A NCBI36
NG_008034.1:g.144104C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1292C>A MANE Select ENSP00000261643.3:n.*1292C>A
ENST00000664217.1:c.*56-49C>A ENSP00000499396.1:n.*56-49C>A
ENST00000670279.1:c.929-1004C>A ENSP00000499450.1:n.929-1004C>A
ENST00000261643.7:c.*1292C>A ENSP00000261643.3:n.*1292C>A
NM_001303.3:c.*1292C>A NP_001294.2:n.*1292C>A
XM_011523658.1:c.*1292C>A XP_011521960.1:n.*1292C>A
XR_933974.1:n.1032-1004C>A
NM_001303.4:c.*1292C>A MANE Select NP_001294.2:n.*1292C>A
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