Canonical Allele Identifier: CA726258981
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs1299455862
gnomAD v3: 17-14208826-G-T
gnomAD v4: 17-14208826-G-T
MyVariant Identifiers: chr17:g.14112143G>T (hg19) chr17:g.14208826G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208826G>T , CM000679.2:g.14208826G>T GRCh38
NC_000017.10:g.14112143G>T , CM000679.1:g.14112143G>T GRCh37
NC_000017.9:g.14052868G>T NCBI36
NG_008034.1:g.144425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+47G>T ENSP00000499396.1:n.*281+47G>T
ENST00000670279.1:c.929-683G>T ENSP00000499450.1:n.929-683G>T
XR_933974.1:n.1032-683G>T
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