Canonical Allele Identifier: CA338339169

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629820A>G , CM000663.2:g.10629820A>G	GRCh38
NC_000001.10:g.10689877A>G , CM000663.1:g.10689877A>G	GRCh37
NC_000001.9:g.10612464A>G	NCBI36
NG_008340.1:g.159875A>G
NG_008340.2:g.159875A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.967A>G MANE Select	NP_004556.1:p.Lys323Glu
ENST00000356607.9:c.967A>G MANE Select	ENSP00000349016.4:p.Lys323Glu
NM_004565.2:c.967A>G	NP_004556.1:p.Lys323Glu
ENST00000356607.8:c.967A>G	ENSP00000349016.4:p.Lys323Glu
XM_005263470.3:c.775A>G	XP_005263527.1:p.Lys259Glu
XM_005263470.5:c.775A>G	XP_005263527.1:p.Lys259Glu
XM_011541577.1:c.1009A>G	XP_011539879.1:p.Lys337Glu
XM_011541577.2:c.1009A>G	XP_011539879.1:p.Lys337Glu
XM_011541578.1:c.910A>G	XP_011539880.1:p.Lys304Glu
XM_011541578.2:c.910A>G	XP_011539880.1:p.Lys304Glu
XM_011541579.1:c.880A>G	XP_011539881.1:p.Lys294Glu
XM_011541579.3:c.880A>G	XP_011539881.1:p.Lys294Glu
XM_011541580.1:c.838A>G	XP_011539882.1:p.Lys280Glu
XM_024447651.1:c.775A>G	XP_024303419.1:p.Lys259Glu