Canonical Allele Identifier: CA398248212

Gene: COX10

Linked Data

• dbSNP Id: rs1176017561
• gnomAD v4: 17-14076875-C-G
• MyVariant Identifiers: chr17:g.13980192C>G (hg19) ; chr17:g.14076875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076875C>G , CM000679.2:g.14076875C>G	GRCh38
NC_000017.10:g.13980192C>G , CM000679.1:g.13980192C>G	GRCh37
NC_000017.9:g.13920917C>G	NCBI36
NG_008034.1:g.12474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.318C>G MANE Select	ENSP00000261643.3:p.Ser106Arg
ENST00000664217.1:c.318C>G	ENSP00000499396.1:p.Ser106Arg
ENST00000670279.1:c.318C>G	ENSP00000499450.1:p.Ser106Arg
ENST00000261643.7:c.318C>G	ENSP00000261643.3:p.Ser106Arg
ENST00000429152.6:c.318C>G	ENSP00000397750.2:p.Ser106Arg
ENST00000580561.1:c.177+2419C>G	ENSP00000462190.1:n.177+2419C>G
ENST00000581931.5:c.318C>G	ENSP00000462512.1:p.Ser106Arg
NM_001303.3:c.318C>G	NP_001294.2:p.Ser106Arg
XM_005256458.1:c.318C>G	XP_005256515.1:p.Ser106Arg
XM_011523657.1:c.318C>G	XP_011521959.1:p.Ser106Arg
XM_011523658.1:c.-134C>G	XP_011521960.1:n.-134C>G
XR_933974.1:n.421C>G
XR_933975.1:n.421C>G
NM_001303.4:c.318C>G MANE Select	NP_001294.2:p.Ser106Arg