Canonical Allele Identifier: CA583984

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629714G>T , CM000663.2:g.10629714G>T	GRCh38
NC_000001.10:g.10689771G>T , CM000663.1:g.10689771G>T	GRCh37
NC_000001.9:g.10612358G>T	NCBI36
NG_008340.1:g.159769G>T
NG_008340.2:g.159769G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.861G>T MANE Select	NP_004556.1:p.Thr287=
ENST00000356607.9:c.861G>T MANE Select	ENSP00000349016.4:p.Thr287=
NM_004565.2:c.861G>T	NP_004556.1:p.Thr287=
ENST00000356607.8:c.861G>T	ENSP00000349016.4:p.Thr287=
XM_005263470.3:c.669G>T	XP_005263527.1:p.Thr223=
XM_005263470.5:c.669G>T	XP_005263527.1:p.Thr223=
XM_011541577.1:c.903G>T	XP_011539879.1:p.Thr301=
XM_011541577.2:c.903G>T	XP_011539879.1:p.Thr301=
XM_011541578.1:c.804G>T	XP_011539880.1:p.Thr268=
XM_011541578.2:c.804G>T	XP_011539880.1:p.Thr268=
XM_011541579.1:c.774G>T	XP_011539881.1:p.Thr258=
XM_011541579.3:c.774G>T	XP_011539881.1:p.Thr258=
XM_011541580.1:c.732G>T	XP_011539882.1:p.Thr244=
XM_024447651.1:c.669G>T	XP_024303419.1:p.Thr223=