Canonical Allele Identifier: CA624926451

Gene: COX10

Linked Data

• dbSNP Id: rs1482781144
• gnomAD v2: 17-14112196-A-G
• gnomAD v3: 17-14208879-A-G
• gnomAD v4: 17-14208879-A-G
• MyVariant Identifiers: chr17:g.14112196A>G (hg19) ; chr17:g.14208879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14208879A>G , CM000679.2:g.14208879A>G	GRCh38
NC_000017.10:g.14112196A>G , CM000679.1:g.14112196A>G	GRCh37
NC_000017.9:g.14052921A>G	NCBI36
NG_008034.1:g.144478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000664217.1:c.*281+100A>G	ENSP00000499396.1:n.*281+100A>G
ENST00000670279.1:c.929-630A>G	ENSP00000499450.1:n.929-630A>G
XR_933974.1:n.1032-630A>G