Canonical Allele Identifier: CA10644894
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 321842
ClinVar RCV Id: RCV000350985 RCV000389123
dbSNP Id: rs555512140
gnomAD v3: 17-14208580-G-A
gnomAD v4: 17-14208580-G-A
MyVariant Identifiers: chr17:g.14111897G>A (hg19) chr17:g.14208580G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208580G>A , CM000679.2:g.14208580G>A GRCh38
NC_000017.10:g.14111897G>A , CM000679.1:g.14111897G>A GRCh37
NC_000017.9:g.14052622G>A NCBI36
NG_008034.1:g.144179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1367G>A MANE Select ENSP00000261643.3:n.*1367G>A
ENST00000664217.1:c.*82G>A ENSP00000499396.1:n.*82G>A
ENST00000670279.1:c.929-929G>A ENSP00000499450.1:n.929-929G>A
ENST00000261643.7:c.*1367G>A ENSP00000261643.3:n.*1367G>A
NM_001303.3:c.*1367G>A NP_001294.2:n.*1367G>A
XM_011523658.1:c.*1367G>A XP_011521960.1:n.*1367G>A
XR_933974.1:n.1032-929G>A
NM_001303.4:c.*1367G>A MANE Select NP_001294.2:n.*1367G>A
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