Canonical Allele Identifier: CA288082262
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs995171605
gnomAD v3: 17-14208758-C-T
gnomAD v4: 17-14208758-C-T
MyVariant Identifiers: chr17:g.14112075C>T (hg19) chr17:g.14208758C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208758C>T , CM000679.2:g.14208758C>T GRCh38
NC_000017.10:g.14112075C>T , CM000679.1:g.14112075C>T GRCh37
NC_000017.9:g.14052800C>T NCBI36
NG_008034.1:g.144357C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*260C>T ENSP00000499396.1:n.*260C>T
ENST00000670279.1:c.929-751C>T ENSP00000499450.1:n.929-751C>T
XR_933974.1:n.1032-751C>T
Search 100 bp 5'
Search 100 bp 3'