Canonical Allele Identifier: CA290466

Gene: COX10

Linked Data

• ClinVar Variation Id: 137003
• ClinVar RCV Id: RCV000124568 ; RCV000264198 ; RCV000377462 ; RCV000676608
• dbSNP Id: rs2159132
• ExAC: 17:14005439 G / A
• gnomAD v2: 17-14005439-G-A
• gnomAD v3: 17-14102122-G-A
• gnomAD v4: 17-14102122-G-A
• MyVariant Identifiers: chr17:g.14005439G>A (hg19) ; chr17:g.14102122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102122G>A , CM000679.2:g.14102122G>A	GRCh38
NC_000017.10:g.14005439G>A , CM000679.1:g.14005439G>A	GRCh37
NC_000017.9:g.13946164G>A	NCBI36
NG_008034.1:g.37721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.504G>A MANE Select	ENSP00000261643.3:p.Leu168=
ENST00000664217.1:c.504G>A	ENSP00000499396.1:p.Leu168=
ENST00000670279.1:c.504G>A	ENSP00000499450.1:p.Leu168=
ENST00000261643.7:c.504G>A	ENSP00000261643.3:p.Leu168=
ENST00000580561.1:c.182G>A	ENSP00000462190.1:p.Trp61Ter
ENST00000581931.5:c.499+25066G>A	ENSP00000462512.1:n.499+25066G>A
NM_001303.3:c.504G>A	NP_001294.2:p.Leu168=
XM_005256458.1:c.504G>A	XP_005256515.1:p.Leu168=
XM_011523657.1:c.504G>A	XP_011521959.1:p.Leu168=
XM_011523658.1:c.48+25066G>A	XP_011521960.1:n.48+25066G>A
XR_933974.1:n.607G>A
XR_933975.1:n.607G>A
NM_001303.4:c.504G>A MANE Select	NP_001294.2:p.Leu168=