Canonical Allele Identifier: CA2636210038
Gene: COX10 HGNC NCBI

Linked Data

gnomAD v4: 17-14208548-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208548C>T , CM000679.2:g.14208548C>T GRCh38
NC_000017.10:g.14111865C>T , CM000679.1:g.14111865C>T GRCh37
NC_000017.9:g.14052590C>T NCBI36
NG_008034.1:g.144147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1335C>T MANE Select ENSP00000261643.3:n.*1335C>T
ENST00000664217.1:c.*56-6C>T ENSP00000499396.1:n.*56-6C>T
ENST00000670279.1:c.929-961C>T ENSP00000499450.1:n.929-961C>T
ENST00000261643.7:c.*1335C>T ENSP00000261643.3:n.*1335C>T
NM_001303.3:c.*1335C>T NP_001294.2:n.*1335C>T
XM_011523658.1:c.*1335C>T XP_011521960.1:n.*1335C>T
XR_933974.1:n.1032-961C>T
NM_001303.4:c.*1335C>T MANE Select NP_001294.2:n.*1335C>T
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