Canonical Allele Identifier: CA10644875

Gene: COX10

Linked Data

• ClinVar Variation Id: 321805
• ClinVar RCV Id: RCV000307762 ; RCV000407367
• dbSNP Id: rs886052598
• gnomAD v4: 17-14069516-G-T
• MyVariant Identifiers: chr17:g.13972833G>T (hg19) ; chr17:g.14069516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14069516G>T , CM000679.2:g.14069516G>T	GRCh38
NC_000017.10:g.13972833G>T , CM000679.1:g.13972833G>T	GRCh37
NC_000017.9:g.13913558G>T	NCBI36
NG_008034.1:g.5115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.-90G>T MANE Select	ENSP00000261643.3:n.-90G>T
ENST00000664217.1:c.-90G>T	ENSP00000499396.1:n.-90G>T
ENST00000670279.1:c.-90G>T	ENSP00000499450.1:n.-90G>T
ENST00000429152.6:c.-90G>T	ENSP00000397750.2:n.-90G>T
NM_001303.3:c.-90G>T	NP_001294.2:n.-90G>T
XM_005256458.1:c.-90G>T	XP_005256515.1:n.-90G>T
XM_011523657.1:c.-90G>T	XP_011521959.1:n.-90G>T
XM_011523658.1:c.-541G>T	XP_011521960.1:n.-541G>T
XR_933974.1:n.14G>T
XR_933975.1:n.14G>T
NM_001303.4:c.-90G>T MANE Select	NP_001294.2:n.-90G>T