Canonical Allele Identifier: CA118860
Gene: COX10 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7523
ClinVar RCV Id: RCV000007958
dbSNP Id: rs104894555

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14102205C>A , CM000679.2:g.14102205C>A GRCh38
NC_000017.10:g.14005522C>A , CM000679.1:g.14005522C>A GRCh37
NC_000017.9:g.13946247C>A NCBI36
NG_008034.1:g.37804C>A

Transcript Alleles

HGVS Amino-acid change
NM_001303.3:c.587C>A VV NP_001294.2:p.Thr196Lys
XM_005256458.1:c.587C>A XP_005256515.1:p.Thr196Lys
XM_011523657.1:c.587C>A XP_011521959.1:p.Thr196Lys
XM_011523658.1:c.48+25149C>A XP_011521960.1:p.=
XR_933974.1:n.690C>A
XR_933975.1:n.690C>A
NM_001303.4:c.587C>A VV MANE Preferred NP_001294.2:p.Thr196Lys
ENST00000261643.7:c.587C>A ENSP00000261643.3:p.Thr196Lys
ENST00000580561.1:c.*76C>A ENSP00000462190.1:p.=
ENST00000581931.5:c.499+25149C>A ENSP00000462512.1:p.=