Canonical Allele Identifier: CA118862
Gene: COX10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.14206888A>T
GRCh37 chr17:g.14110205A>T
Revel Score:
ENST00000261643 (MANE Select) 0.984
ENST00000536205 0.984
ENST00000537334 0.984
gnomAD v2:
17:14110205 A / T
gnomAD v3:
17:14206888 A / T
gnomAD v4:
chr17-14206888-A-T
Joint Max Group AF 0.00015106 (NFE)
Genomes Max Group AF 0.00005844 (NFE)
Exomes Max Group AF 0.00015319 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14206888A>T , CM000679.2:g.14206888A>T GRCh38
NC_000017.10:g.14110205A>T , CM000679.1:g.14110205A>T GRCh37
NC_000017.9:g.14050930A>T NCBI36
NG_008034.1:g.142487A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.1007A>T MANE Select ENSP00000261643.3:p.Asp336Val
ENST00000664217.1:c.1007A>T ENSP00000499396.1:p.Asp336Val
ENST00000670279.1:c.929-2621A>T ENSP00000499450.1:n.929-2621A>T
ENST00000261643.7:c.1007A>T ENSP00000261643.3:p.Asp336Val
ENST00000580561.1:c.*496A>T ENSP00000462190.1:n.*496A>T
ENST00000581931.5:c.*375A>T ENSP00000462512.1:n.*375A>T
NM_001303.3:c.1007A>T NP_001294.2:p.Asp336Val
XM_011523657.1:c.*3A>T XP_011521959.1:n.*3A>T
XM_011523658.1:c.431A>T XP_011521960.1:p.Asp144Val
XR_933974.1:n.1032-2621A>T
NM_001303.4:c.1007A>T MANE Select NP_001294.2:p.Asp336Val
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