Canonical Allele Identifier: CA288735958

Gene: COX10

Linked Data

• dbSNP Id: rs750400414
• gnomAD v3: 17-14069513-A-G
• gnomAD v4: 17-14069513-A-G
• MyVariant Identifiers: chr17:g.13972830A>G (hg19) ; chr17:g.14069513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14069513A>G , CM000679.2:g.14069513A>G	GRCh38
NC_000017.10:g.13972830A>G , CM000679.1:g.13972830A>G	GRCh37
NC_000017.9:g.13913555A>G	NCBI36
NG_008034.1:g.5112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.-93A>G MANE Select	ENSP00000261643.3:n.-93A>G
ENST00000664217.1:c.-93A>G	ENSP00000499396.1:n.-93A>G
ENST00000670279.1:c.-93A>G	ENSP00000499450.1:n.-93A>G
ENST00000429152.6:c.-93A>G	ENSP00000397750.2:n.-93A>G
NM_001303.3:c.-93A>G	NP_001294.2:n.-93A>G
XM_005256458.1:c.-93A>G	XP_005256515.1:n.-93A>G
XM_011523657.1:c.-93A>G	XP_011521959.1:n.-93A>G
XM_011523658.1:c.-544A>G	XP_011521960.1:n.-544A>G
XR_933974.1:n.11A>G
XR_933975.1:n.11A>G
NM_001303.4:c.-93A>G MANE Select	NP_001294.2:n.-93A>G