Canonical Allele Identifier: CA398248689

Gene: COX10

Linked Data

• gnomAD v4: 17-14102130-G-A
• MyVariant Identifiers: chr17:g.14005447G>A (hg19) ; chr17:g.14102130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102130G>A , CM000679.2:g.14102130G>A	GRCh38
NC_000017.10:g.14005447G>A , CM000679.1:g.14005447G>A	GRCh37
NC_000017.9:g.13946172G>A	NCBI36
NG_008034.1:g.37729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.512G>A MANE Select	ENSP00000261643.3:p.Ser171Asn
ENST00000664217.1:c.512G>A	ENSP00000499396.1:p.Ser171Asn
ENST00000670279.1:c.512G>A	ENSP00000499450.1:p.Ser171Asn
ENST00000261643.7:c.512G>A	ENSP00000261643.3:p.Ser171Asn
ENST00000580561.1:c.*1G>A	ENSP00000462190.1:n.*1G>A
ENST00000581931.5:c.499+25074G>A	ENSP00000462512.1:n.499+25074G>A
NM_001303.3:c.512G>A	NP_001294.2:p.Ser171Asn
XM_005256458.1:c.512G>A	XP_005256515.1:p.Ser171Asn
XM_011523657.1:c.512G>A	XP_011521959.1:p.Ser171Asn
XM_011523658.1:c.48+25074G>A	XP_011521960.1:n.48+25074G>A
XR_933974.1:n.615G>A
XR_933975.1:n.615G>A
NM_001303.4:c.512G>A MANE Select	NP_001294.2:p.Ser171Asn