Canonical Allele Identifier: CA14461200
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs143094081
gnomAD v2: 17-14112174-A-T
gnomAD v3: 17-14208857-A-T
gnomAD v4: 17-14208857-A-T
MyVariant Identifiers: chr17:g.14112174A>T (hg19) chr17:g.14208857A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208857A>T , CM000679.2:g.14208857A>T GRCh38
NC_000017.10:g.14112174A>T , CM000679.1:g.14112174A>T GRCh37
NC_000017.9:g.14052899A>T NCBI36
NG_008034.1:g.144456A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+78A>T ENSP00000499396.1:n.*281+78A>T
ENST00000670279.1:c.929-652A>T ENSP00000499450.1:n.929-652A>T
XR_933974.1:n.1032-652A>T
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