Canonical Allele Identifier: CA498438769
Gene: COX10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.13980228G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14076911G>A , CM000679.2:g.14076911G>A GRCh38
NC_000017.10:g.13980228G>A , CM000679.1:g.13980228G>A GRCh37
NC_000017.9:g.13920953G>A NCBI36
NG_008034.1:g.12510G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.354G>A MANE Select ENSP00000261643.3:p.Leu118=
ENST00000664217.1:c.354G>A ENSP00000499396.1:p.Leu118=
ENST00000670279.1:c.354G>A ENSP00000499450.1:p.Leu118=
ENST00000261643.7:c.354G>A ENSP00000261643.3:p.Leu118=
ENST00000429152.6:c.354G>A ENSP00000397750.2:p.Leu118=
ENST00000580561.1:c.177+2455G>A ENSP00000462190.1:n.177+2455G>A
ENST00000581931.5:c.354G>A ENSP00000462512.1:p.Leu118=
NM_001303.3:c.354G>A NP_001294.2:p.Leu118=
XM_005256458.1:c.354G>A XP_005256515.1:p.Leu118=
XM_011523657.1:c.354G>A XP_011521959.1:p.Leu118=
XM_011523658.1:c.-98G>A XP_011521960.1:n.-98G>A
XR_933974.1:n.457G>A
XR_933975.1:n.457G>A
NM_001303.4:c.354G>A MANE Select NP_001294.2:p.Leu118=