Canonical Allele Identifier: CA8402192
Gene: COX10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.14069582G>A
GRCh37 chr17:g.13972899G>A
gnomAD v2:
17:13972899 G / A
gnomAD v3:
17:14069582 G / A
gnomAD v4:
chr17-14069582-G-A
Joint Max Group AF 0.00061355 (SAS)
Genomes Max Group AF 0.00028337 (SAS)
Exomes Max Group AF 0.00060644 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14069582G>A , CM000679.2:g.14069582G>A GRCh38
NC_000017.10:g.13972899G>A , CM000679.1:g.13972899G>A GRCh37
NC_000017.9:g.13913624G>A NCBI36
NG_008034.1:g.5181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.-24G>A MANE Select ENSP00000261643.3:n.-24G>A
ENST00000664217.1:c.-24G>A ENSP00000499396.1:n.-24G>A
ENST00000670279.1:c.-24G>A ENSP00000499450.1:n.-24G>A
ENST00000261643.7:c.-24G>A ENSP00000261643.3:n.-24G>A
ENST00000429152.6:c.-24G>A ENSP00000397750.2:n.-24G>A
NM_001303.3:c.-24G>A NP_001294.2:n.-24G>A
XM_005256458.1:c.-24G>A XP_005256515.1:n.-24G>A
XM_011523657.1:c.-24G>A XP_011521959.1:n.-24G>A
XM_011523658.1:c.-475G>A XP_011521960.1:n.-475G>A
XR_933974.1:n.80G>A
XR_933975.1:n.80G>A
NM_001303.4:c.-24G>A MANE Select NP_001294.2:n.-24G>A
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