Canonical Allele Identifier: CA624926362
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1226502967
gnomAD v2: 17-14111853-C-G
gnomAD v3: 17-14208536-C-G
gnomAD v4: 17-14208536-C-G
MyVariant Identifiers: chr17:g.14111853C>G (hg19) chr17:g.14208536C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208536C>G , CM000679.2:g.14208536C>G GRCh38
NC_000017.10:g.14111853C>G , CM000679.1:g.14111853C>G GRCh37
NC_000017.9:g.14052578C>G NCBI36
NG_008034.1:g.144135C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1323C>G MANE Select ENSP00000261643.3:n.*1323C>G
ENST00000664217.1:c.*56-18C>G ENSP00000499396.1:n.*56-18C>G
ENST00000670279.1:c.929-973C>G ENSP00000499450.1:n.929-973C>G
ENST00000261643.7:c.*1323C>G ENSP00000261643.3:n.*1323C>G
NM_001303.3:c.*1323C>G NP_001294.2:n.*1323C>G
XM_011523658.1:c.*1323C>G XP_011521960.1:n.*1323C>G
XR_933974.1:n.1032-973C>G
NM_001303.4:c.*1323C>G MANE Select NP_001294.2:n.*1323C>G
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