Canonical Allele Identifier: CA498340628
Gene: COX10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.14005442T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14102125T>G , CM000679.2:g.14102125T>G GRCh38
NC_000017.10:g.14005442T>G , CM000679.1:g.14005442T>G GRCh37
NC_000017.9:g.13946167T>G NCBI36
NG_008034.1:g.37724T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.507T>G MANE Select ENSP00000261643.3:p.Val169=
ENST00000664217.1:c.507T>G ENSP00000499396.1:p.Val169=
ENST00000670279.1:c.507T>G ENSP00000499450.1:p.Val169=
ENST00000261643.7:c.507T>G ENSP00000261643.3:p.Val169=
ENST00000580561.1:c.185T>G ENSP00000462190.1:p.Leu62Trp
ENST00000581931.5:c.499+25069T>G ENSP00000462512.1:n.499+25069T>G
NM_001303.3:c.507T>G NP_001294.2:p.Val169=
XM_005256458.1:c.507T>G XP_005256515.1:p.Val169=
XM_011523657.1:c.507T>G XP_011521959.1:p.Val169=
XM_011523658.1:c.48+25069T>G XP_011521960.1:n.48+25069T>G
XR_933974.1:n.610T>G
XR_933975.1:n.610T>G
NM_001303.4:c.507T>G MANE Select NP_001294.2:p.Val169=