Canonical Allele Identifier: CA398248678

Gene: COX10

Linked Data

• dbSNP Id: rs1567591456
• gnomAD v4: 17-14102126-G-T
• MyVariant Identifiers: chr17:g.14005443G>T (hg19) ; chr17:g.14102126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102126G>T , CM000679.2:g.14102126G>T	GRCh38
NC_000017.10:g.14005443G>T , CM000679.1:g.14005443G>T	GRCh37
NC_000017.9:g.13946168G>T	NCBI36
NG_008034.1:g.37725G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.508G>T MANE Select	ENSP00000261643.3:p.Val170Leu
ENST00000664217.1:c.508G>T	ENSP00000499396.1:p.Val170Leu
ENST00000670279.1:c.508G>T	ENSP00000499450.1:p.Val170Leu
ENST00000261643.7:c.508G>T	ENSP00000261643.3:p.Val170Leu
ENST00000580561.1:c.186G>T	ENSP00000462190.1:p.Leu62Phe
ENST00000581931.5:c.499+25070G>T	ENSP00000462512.1:n.499+25070G>T
NM_001303.3:c.508G>T	NP_001294.2:p.Val170Leu
XM_005256458.1:c.508G>T	XP_005256515.1:p.Val170Leu
XM_011523657.1:c.508G>T	XP_011521959.1:p.Val170Leu
XM_011523658.1:c.48+25070G>T	XP_011521960.1:n.48+25070G>T
XR_933974.1:n.611G>T
XR_933975.1:n.611G>T
NM_001303.4:c.508G>T MANE Select	NP_001294.2:p.Val170Leu