Canonical Allele Identifier: CA583757

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10599290C>T , CM000663.2:g.10599290C>T	GRCh38
NC_000001.10:g.10659347C>T , CM000663.1:g.10659347C>T	GRCh37
NC_000001.9:g.10581934C>T	NCBI36
NG_008340.1:g.129345C>T
NG_008340.2:g.129345C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.222C>T MANE Select	NP_004556.1:p.Ala74=
ENST00000356607.9:c.222C>T MANE Select	ENSP00000349016.4:p.Ala74=
NM_004565.2:c.222C>T	NP_004556.1:p.Ala74=
ENST00000356607.8:c.222C>T	ENSP00000349016.4:p.Ala74=
ENST00000491661.2:c.207C>T	ENSP00000465473.1:p.Ala69=
XM_005263470.3:c.30C>T	XP_005263527.1:p.Ala10=
XM_005263470.5:c.30C>T	XP_005263527.1:p.Ala10=
XM_011541577.1:c.264C>T	XP_011539879.1:p.Ala88=
XM_011541577.2:c.264C>T	XP_011539879.1:p.Ala88=
XM_011541578.1:c.165C>T	XP_011539880.1:p.Ala55=
XM_011541578.2:c.165C>T	XP_011539880.1:p.Ala55=
XM_011541579.1:c.212-19042C>T	XP_011539881.1:n.212-19042C>T
XM_011541579.3:c.212-19042C>T	XP_011539881.1:n.212-19042C>T
XM_011541580.1:c.170-19042C>T	XP_011539882.1:n.170-19042C>T
XM_024447651.1:c.30C>T	XP_024303419.1:p.Ala10=