Canonical Allele Identifier: CA726247117

Gene: COX10

Linked Data

• dbSNP Id: rs1295497966
• gnomAD v3: 17-14102033-A-C
• gnomAD v4: 17-14102033-A-C
• MyVariant Identifiers: chr17:g.14005350A>C (hg19) ; chr17:g.14102033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102033A>C , CM000679.2:g.14102033A>C	GRCh38
NC_000017.10:g.14005350A>C , CM000679.1:g.14005350A>C	GRCh37
NC_000017.9:g.13946075A>C	NCBI36
NG_008034.1:g.37632A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.500-85A>C MANE Select	ENSP00000261643.3:n.500-85A>C
ENST00000664217.1:c.500-85A>C	ENSP00000499396.1:n.500-85A>C
ENST00000670279.1:c.500-85A>C	ENSP00000499450.1:n.500-85A>C
ENST00000261643.7:c.500-85A>C	ENSP00000261643.3:n.500-85A>C
ENST00000580561.1:c.178-85A>C	ENSP00000462190.1:n.178-85A>C
ENST00000581931.5:c.499+24977A>C	ENSP00000462512.1:n.499+24977A>C
NM_001303.3:c.500-85A>C	NP_001294.2:n.500-85A>C
XM_005256458.1:c.500-85A>C	XP_005256515.1:n.500-85A>C
XM_011523657.1:c.500-85A>C	XP_011521959.1:n.500-85A>C
XM_011523658.1:c.48+24977A>C	XP_011521960.1:n.48+24977A>C
XR_933974.1:n.603-85A>C
XR_933975.1:n.603-85A>C
NM_001303.4:c.500-85A>C MANE Select	NP_001294.2:n.500-85A>C