Canonical Allele Identifier: CA288082073
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs995581493
gnomAD v2: 17-14111841-T-C
gnomAD v3: 17-14208524-T-C
gnomAD v4: 17-14208524-T-C
MyVariant Identifiers: chr17:g.14111841T>C (hg19) chr17:g.14208524T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208524T>C , CM000679.2:g.14208524T>C GRCh38
NC_000017.10:g.14111841T>C , CM000679.1:g.14111841T>C GRCh37
NC_000017.9:g.14052566T>C NCBI36
NG_008034.1:g.144123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1311T>C MANE Select ENSP00000261643.3:n.*1311T>C
ENST00000664217.1:c.*56-30T>C ENSP00000499396.1:n.*56-30T>C
ENST00000670279.1:c.929-985T>C ENSP00000499450.1:n.929-985T>C
ENST00000261643.7:c.*1311T>C ENSP00000261643.3:n.*1311T>C
NM_001303.3:c.*1311T>C NP_001294.2:n.*1311T>C
XM_011523658.1:c.*1311T>C XP_011521960.1:n.*1311T>C
XR_933974.1:n.1032-985T>C
NM_001303.4:c.*1311T>C MANE Select NP_001294.2:n.*1311T>C
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