Canonical Allele Identifier: CA398248229

Gene: COX10

Linked Data

• MyVariant Identifiers: chr17:g.13980201G>C (hg19) ; chr17:g.14076884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076884G>C , CM000679.2:g.14076884G>C	GRCh38
NC_000017.10:g.13980201G>C , CM000679.1:g.13980201G>C	GRCh37
NC_000017.9:g.13920926G>C	NCBI36
NG_008034.1:g.12483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.327G>C MANE Select	ENSP00000261643.3:p.Leu109Phe
ENST00000664217.1:c.327G>C	ENSP00000499396.1:p.Leu109Phe
ENST00000670279.1:c.327G>C	ENSP00000499450.1:p.Leu109Phe
ENST00000261643.7:c.327G>C	ENSP00000261643.3:p.Leu109Phe
ENST00000429152.6:c.327G>C	ENSP00000397750.2:p.Leu109Phe
ENST00000580561.1:c.177+2428G>C	ENSP00000462190.1:n.177+2428G>C
ENST00000581931.5:c.327G>C	ENSP00000462512.1:p.Leu109Phe
NM_001303.3:c.327G>C	NP_001294.2:p.Leu109Phe
XM_005256458.1:c.327G>C	XP_005256515.1:p.Leu109Phe
XM_011523657.1:c.327G>C	XP_011521959.1:p.Leu109Phe
XM_011523658.1:c.-125G>C	XP_011521960.1:n.-125G>C
XR_933974.1:n.430G>C
XR_933975.1:n.430G>C
NM_001303.4:c.327G>C MANE Select	NP_001294.2:p.Leu109Phe