Canonical Allele Identifier: CA583971

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629669G>A , CM000663.2:g.10629669G>A	GRCh38
NC_000001.10:g.10689726G>A , CM000663.1:g.10689726G>A	GRCh37
NC_000001.9:g.10612313G>A	NCBI36
NG_008340.1:g.159724G>A
NG_008340.2:g.159724G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.816G>A MANE Select	NP_004556.1:p.Thr272=
ENST00000356607.9:c.816G>A MANE Select	ENSP00000349016.4:p.Thr272=
NM_004565.2:c.816G>A	NP_004556.1:p.Thr272=
ENST00000356607.8:c.816G>A	ENSP00000349016.4:p.Thr272=
XM_005263470.3:c.624G>A	XP_005263527.1:p.Thr208=
XM_005263470.5:c.624G>A	XP_005263527.1:p.Thr208=
XM_011541577.1:c.858G>A	XP_011539879.1:p.Thr286=
XM_011541577.2:c.858G>A	XP_011539879.1:p.Thr286=
XM_011541578.1:c.759G>A	XP_011539880.1:p.Thr253=
XM_011541578.2:c.759G>A	XP_011539880.1:p.Thr253=
XM_011541579.1:c.729G>A	XP_011539881.1:p.Thr243=
XM_011541579.3:c.729G>A	XP_011539881.1:p.Thr243=
XM_011541580.1:c.687G>A	XP_011539882.1:p.Thr229=
XM_024447651.1:c.624G>A	XP_024303419.1:p.Thr208=