Canonical Allele Identifier: CA8402358
Gene: COX10 HGNC NCBI
COSMIC:
COSM975650
MyVariant.info:
GRCh38 chr17:g.14102161G>A
GRCh37 chr17:g.14005478G>A
gnomAD v2:
17:14005478 G / A
gnomAD v3:
17:14102161 G / A
gnomAD v4:
chr17-14102161-G-A
Joint Max Group AF 0.00179145 (SAS)
Genomes Max Group AF 0.00159585 (SAS)
Exomes Max Group AF 0.00174989 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14102161G>A , CM000679.2:g.14102161G>A GRCh38
NC_000017.10:g.14005478G>A , CM000679.1:g.14005478G>A GRCh37
NC_000017.9:g.13946203G>A NCBI36
NG_008034.1:g.37760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.543G>A MANE Select ENSP00000261643.3:p.Pro181=
ENST00000664217.1:c.543G>A ENSP00000499396.1:p.Pro181=
ENST00000670279.1:c.543G>A ENSP00000499450.1:p.Pro181=
ENST00000261643.7:c.543G>A ENSP00000261643.3:p.Pro181=
ENST00000580561.1:c.*32G>A ENSP00000462190.1:n.*32G>A
ENST00000581931.5:c.499+25105G>A ENSP00000462512.1:n.499+25105G>A
NM_001303.3:c.543G>A NP_001294.2:p.Pro181=
XM_005256458.1:c.543G>A XP_005256515.1:p.Pro181=
XM_011523657.1:c.543G>A XP_011521959.1:p.Pro181=
XM_011523658.1:c.48+25105G>A XP_011521960.1:n.48+25105G>A
XR_933974.1:n.646G>A
XR_933975.1:n.646G>A
NM_001303.4:c.543G>A MANE Select NP_001294.2:p.Pro181=
Search 100 bp 5'
Search 100 bp 3'