Canonical Allele Identifier: CA8402301
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 618042
ClinVar RCV Id: RCV000755984
dbSNP Id: rs201424119

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14076937T>C , CM000679.2:g.14076937T>C GRCh38
NC_000017.10:g.13980254T>C , CM000679.1:g.13980254T>C GRCh37
NC_000017.9:g.13920979T>C NCBI36
NG_008034.1:g.12536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.380T>C MANE Select ENSP00000261643.3:p.Ile127Thr
ENST00000664217.1:c.380T>C ENSP00000499396.1:p.Ile127Thr
ENST00000670279.1:c.380T>C ENSP00000499450.1:p.Ile127Thr
ENST00000261643.7:c.380T>C ENSP00000261643.3:p.Ile127Thr
ENST00000429152.6:c.380T>C ENSP00000397750.2:p.Ile127Thr
ENST00000580561.1:c.177+2481T>C ENSP00000462190.1:n.177+2481T>C
ENST00000581931.5:c.380T>C ENSP00000462512.1:p.Ile127Thr
NM_001303.3:c.380T>C NP_001294.2:p.Ile127Thr
XM_005256458.1:c.380T>C XP_005256515.1:p.Ile127Thr
XM_011523657.1:c.380T>C XP_011521959.1:p.Ile127Thr
XM_011523658.1:c.-72T>C XP_011521960.1:n.-72T>C
XR_933974.1:n.483T>C
XR_933975.1:n.483T>C
NM_001303.4:c.380T>C MANE Select NP_001294.2:p.Ile127Thr