Canonical Allele Identifier: CA726258925

Gene: COX10

Linked Data

• dbSNP Id: rs1298117752
• gnomAD v3: 17-14208752-T-G
• gnomAD v4: 17-14208752-T-G
• MyVariant Identifiers: chr17:g.14112069T>G (hg19) ; chr17:g.14208752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14208752T>G , CM000679.2:g.14208752T>G	GRCh38
NC_000017.10:g.14112069T>G , CM000679.1:g.14112069T>G	GRCh37
NC_000017.9:g.14052794T>G	NCBI36
NG_008034.1:g.144351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000664217.1:c.*254T>G	ENSP00000499396.1:n.*254T>G
ENST00000670279.1:c.929-757T>G	ENSP00000499450.1:n.929-757T>G
XR_933974.1:n.1032-757T>G