Canonical Allele Identifier: CA726311407

Gene: COX10

Linked Data

• dbSNP Id: rs1488186898
• gnomAD v3: 17-14069515-A-C
• gnomAD v4: 17-14069515-A-C
• MyVariant Identifiers: chr17:g.13972832A>C (hg19) ; chr17:g.14069515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14069515A>C , CM000679.2:g.14069515A>C	GRCh38
NC_000017.10:g.13972832A>C , CM000679.1:g.13972832A>C	GRCh37
NC_000017.9:g.13913557A>C	NCBI36
NG_008034.1:g.5114A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.-91A>C MANE Select	ENSP00000261643.3:n.-91A>C
ENST00000664217.1:c.-91A>C	ENSP00000499396.1:n.-91A>C
ENST00000670279.1:c.-91A>C	ENSP00000499450.1:n.-91A>C
ENST00000429152.6:c.-91A>C	ENSP00000397750.2:n.-91A>C
NM_001303.3:c.-91A>C	NP_001294.2:n.-91A>C
XM_005256458.1:c.-91A>C	XP_005256515.1:n.-91A>C
XM_011523657.1:c.-91A>C	XP_011521959.1:n.-91A>C
XM_011523658.1:c.-542A>C	XP_011521960.1:n.-542A>C
XR_933974.1:n.13A>C
XR_933975.1:n.13A>C
NM_001303.4:c.-91A>C MANE Select	NP_001294.2:n.-91A>C