Canonical Allele Identifier: CA288082185

Gene: COX10

Linked Data

• dbSNP Id: rs576768523
• gnomAD v3: 17-14208616-C-G
• gnomAD v4: 17-14208616-C-G
• MyVariant Identifiers: chr17:g.14111933C>G (hg19) ; chr17:g.14208616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14208616C>G , CM000679.2:g.14208616C>G	GRCh38
NC_000017.10:g.14111933C>G , CM000679.1:g.14111933C>G	GRCh37
NC_000017.9:g.14052658C>G	NCBI36
NG_008034.1:g.144215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.*1403C>G MANE Select	ENSP00000261643.3:n.*1403C>G
ENST00000664217.1:c.*118C>G	ENSP00000499396.1:n.*118C>G
ENST00000670279.1:c.929-893C>G	ENSP00000499450.1:n.929-893C>G
ENST00000261643.7:c.*1403C>G	ENSP00000261643.3:n.*1403C>G
NM_001303.3:c.*1403C>G	NP_001294.2:n.*1403C>G
XM_011523658.1:c.*1403C>G	XP_011521960.1:n.*1403C>G
XR_933974.1:n.1032-893C>G
NM_001303.4:c.*1403C>G MANE Select	NP_001294.2:n.*1403C>G