Canonical Allele Identifier: CA10649516
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 321841
ClinVar RCV Id: RCV000288971 RCV000381119
dbSNP Id: rs75636595
gnomAD v2: 17-14111854-C-T
gnomAD v3: 17-14208537-C-T
gnomAD v4: 17-14208537-C-T
MyVariant Identifiers: chr17:g.14111854C>T (hg19) chr17:g.14208537C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208537C>T , CM000679.2:g.14208537C>T GRCh38
NC_000017.10:g.14111854C>T , CM000679.1:g.14111854C>T GRCh37
NC_000017.9:g.14052579C>T NCBI36
NG_008034.1:g.144136C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1324C>T MANE Select ENSP00000261643.3:n.*1324C>T
ENST00000664217.1:c.*56-17C>T ENSP00000499396.1:n.*56-17C>T
ENST00000670279.1:c.929-972C>T ENSP00000499450.1:n.929-972C>T
ENST00000261643.7:c.*1324C>T ENSP00000261643.3:n.*1324C>T
NM_001303.3:c.*1324C>T NP_001294.2:n.*1324C>T
XM_011523658.1:c.*1324C>T XP_011521960.1:n.*1324C>T
XR_933974.1:n.1032-972C>T
NM_001303.4:c.*1324C>T MANE Select NP_001294.2:n.*1324C>T
Search 100 bp 5'
Search 100 bp 3'