Canonical Allele Identifier: CA624926361
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1327803421
gnomAD v2: 17-14111850-T-G
gnomAD v3: 17-14208533-T-G
gnomAD v4: 17-14208533-T-G
MyVariant Identifiers: chr17:g.14111850T>G (hg19) chr17:g.14208533T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208533T>G , CM000679.2:g.14208533T>G GRCh38
NC_000017.10:g.14111850T>G , CM000679.1:g.14111850T>G GRCh37
NC_000017.9:g.14052575T>G NCBI36
NG_008034.1:g.144132T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1320T>G MANE Select ENSP00000261643.3:n.*1320T>G
ENST00000664217.1:c.*56-21T>G ENSP00000499396.1:n.*56-21T>G
ENST00000670279.1:c.929-976T>G ENSP00000499450.1:n.929-976T>G
ENST00000261643.7:c.*1320T>G ENSP00000261643.3:n.*1320T>G
NM_001303.3:c.*1320T>G NP_001294.2:n.*1320T>G
XM_011523658.1:c.*1320T>G XP_011521960.1:n.*1320T>G
XR_933974.1:n.1032-976T>G
NM_001303.4:c.*1320T>G MANE Select NP_001294.2:n.*1320T>G
Search 100 bp 5'
Search 100 bp 3'