Canonical Allele Identifier: CA288082247
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1024517229
gnomAD v3: 17-14208745-C-T
gnomAD v4: 17-14208745-C-T
MyVariant Identifiers: chr17:g.14112062C>T (hg19) chr17:g.14208745C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208745C>T , CM000679.2:g.14208745C>T GRCh38
NC_000017.10:g.14112062C>T , CM000679.1:g.14112062C>T GRCh37
NC_000017.9:g.14052787C>T NCBI36
NG_008034.1:g.144344C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*247C>T ENSP00000499396.1:n.*247C>T
ENST00000670279.1:c.929-764C>T ENSP00000499450.1:n.929-764C>T
XR_933974.1:n.1032-764C>T
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