Canonical Allele Identifier: CA118861
Gene: COX10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.14159926C>T
GRCh37 chr17:g.14063243C>T
Revel Score:
ENST00000261643 (MANE Select) 0.769
ENST00000536205 0.769
ENST00000537334 0.769
gnomAD v2:
17:14063243 C / T
gnomAD v3:
17:14159926 C / T
gnomAD v4:
chr17-14159926-C-T
Joint Max Group AF 0.0000074 (EAS)
Genomes Max Group AF 0.00006832 (EAS)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000007959
ClinVar Variation:
7524
dbSNP:
104894556
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14159926C>T , CM000679.2:g.14159926C>T GRCh38
NC_000017.10:g.14063243C>T , CM000679.1:g.14063243C>T GRCh37
NC_000017.9:g.14003968C>T NCBI36
NG_008034.1:g.95525C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.674C>T MANE Select ENSP00000261643.3:p.Pro225Leu
ENST00000664217.1:c.674C>T ENSP00000499396.1:p.Pro225Leu
ENST00000670279.1:c.674C>T ENSP00000499450.1:p.Pro225Leu
ENST00000261643.7:c.674C>T ENSP00000261643.3:p.Pro225Leu
ENST00000580561.1:c.*163C>T ENSP00000462190.1:n.*163C>T
ENST00000581931.5:c.*42C>T ENSP00000462512.1:n.*42C>T
NM_001303.3:c.674C>T NP_001294.2:p.Pro225Leu
XM_005256458.1:c.674C>T XP_005256515.1:p.Pro225Leu
XM_011523657.1:c.674C>T XP_011521959.1:p.Pro225Leu
XM_011523658.1:c.98C>T XP_011521960.1:p.Pro33Leu
XR_933974.1:n.777C>T
XR_933975.1:n.777C>T
NM_001303.4:c.674C>T MANE Select NP_001294.2:p.Pro225Leu
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