Canonical Allele Identifier: CA583964

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629619G>A , CM000663.2:g.10629619G>A	GRCh38
NC_000001.10:g.10689676G>A , CM000663.1:g.10689676G>A	GRCh37
NC_000001.9:g.10612263G>A	NCBI36
NG_008340.1:g.159674G>A
NG_008340.2:g.159674G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.766G>A MANE Select	NP_004556.1:p.Val256Met
ENST00000356607.9:c.766G>A MANE Select	ENSP00000349016.4:p.Val256Met
NM_004565.2:c.766G>A	NP_004556.1:p.Val256Met
ENST00000356607.8:c.766G>A	ENSP00000349016.4:p.Val256Met
XM_005263470.3:c.574G>A	XP_005263527.1:p.Val192Met
XM_005263470.5:c.574G>A	XP_005263527.1:p.Val192Met
XM_011541577.1:c.808G>A	XP_011539879.1:p.Val270Met
XM_011541577.2:c.808G>A	XP_011539879.1:p.Val270Met
XM_011541578.1:c.709G>A	XP_011539880.1:p.Val237Met
XM_011541578.2:c.709G>A	XP_011539880.1:p.Val237Met
XM_011541579.1:c.679G>A	XP_011539881.1:p.Val227Met
XM_011541579.3:c.679G>A	XP_011539881.1:p.Val227Met
XM_011541580.1:c.637G>A	XP_011539882.1:p.Val213Met
XM_024447651.1:c.574G>A	XP_024303419.1:p.Val192Met