Canonical Allele Identifier: CA498327732

Gene: COX10 COX10-DT

Linked Data

• dbSNP Id: rs1914955171
• gnomAD v4: 17-14069442-C-G
• MyVariant Identifiers: chr17:g.13972759C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14069442C>G , CM000679.2:g.14069442C>G	GRCh38
NC_000017.10:g.13972759C>G , CM000679.1:g.13972759C>G	GRCh37
NC_000017.9:g.13913484C>G	NCBI36
NG_008034.1:g.5041C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001303.3:c.-164C>G (COX10)	NP_001294.2:n.-164C>G
NR_049718.1:n.17G>C (COX10-DT)