Canonical Allele Identifier: CA584036

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629969C>T , CM000663.2:g.10629969C>T	GRCh38
NC_000001.10:g.10690026C>T , CM000663.1:g.10690026C>T	GRCh37
NC_000001.9:g.10612613C>T	NCBI36
NG_008340.1:g.160024C>T
NG_008340.2:g.160024C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.1116C>T MANE Select	NP_004556.1:p.Asn372=
ENST00000356607.9:c.1116C>T MANE Select	ENSP00000349016.4:p.Asn372=
NM_004565.2:c.1116C>T	NP_004556.1:p.Asn372=
ENST00000356607.8:c.1116C>T	ENSP00000349016.4:p.Asn372=
XM_005263470.3:c.924C>T	XP_005263527.1:p.Asn308=
XM_005263470.5:c.924C>T	XP_005263527.1:p.Asn308=
XM_011541577.1:c.1158C>T	XP_011539879.1:p.Asn386=
XM_011541577.2:c.1158C>T	XP_011539879.1:p.Asn386=
XM_011541578.1:c.1059C>T	XP_011539880.1:p.Asn353=
XM_011541578.2:c.1059C>T	XP_011539880.1:p.Asn353=
XM_011541579.1:c.1029C>T	XP_011539881.1:p.Asn343=
XM_011541579.3:c.1029C>T	XP_011539881.1:p.Asn343=
XM_011541580.1:c.987C>T	XP_011539882.1:p.Asn329=
XM_024447651.1:c.924C>T	XP_024303419.1:p.Asn308=