Canonical Allele Identifier: CA583805

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10618363C>T , CM000663.2:g.10618363C>T	GRCh38
NC_000001.10:g.10678420C>T , CM000663.1:g.10678420C>T	GRCh37
NC_000001.9:g.10601007C>T	NCBI36
NG_008340.1:g.148418C>T
NG_008340.2:g.148418C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.330C>T MANE Select	NP_004556.1:p.Gly110=
ENST00000356607.9:c.330C>T MANE Select	ENSP00000349016.4:p.Gly110=
NM_004565.2:c.330C>T	NP_004556.1:p.Gly110=
ENST00000356607.8:c.330C>T	ENSP00000349016.4:p.Gly110=
ENST00000491661.2:c.315C>T	ENSP00000465473.1:p.Gly105=
XM_005263470.3:c.138C>T	XP_005263527.1:p.Gly46=
XM_005263470.5:c.138C>T	XP_005263527.1:p.Gly46=
XM_011541577.1:c.372C>T	XP_011539879.1:p.Gly124=
XM_011541577.2:c.372C>T	XP_011539879.1:p.Gly124=
XM_011541578.1:c.273C>T	XP_011539880.1:p.Gly91=
XM_011541578.2:c.273C>T	XP_011539880.1:p.Gly91=
XM_011541579.1:c.243C>T	XP_011539881.1:p.Gly81=
XM_011541579.3:c.243C>T	XP_011539881.1:p.Gly81=
XM_011541580.1:c.201C>T	XP_011539882.1:p.Gly67=
XM_024447651.1:c.138C>T	XP_024303419.1:p.Gly46=