Canonical Allele Identifier: CA583946

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629546A>G , CM000663.2:g.10629546A>G	GRCh38
NC_000001.10:g.10689603A>G , CM000663.1:g.10689603A>G	GRCh37
NC_000001.9:g.10612190A>G	NCBI36
NG_008340.1:g.159601A>G
NG_008340.2:g.159601A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.693A>G MANE Select	NP_004556.1:p.Pro231=
ENST00000356607.9:c.693A>G MANE Select	ENSP00000349016.4:p.Pro231=
NM_004565.2:c.693A>G	NP_004556.1:p.Pro231=
ENST00000356607.8:c.693A>G	ENSP00000349016.4:p.Pro231=
XM_005263470.3:c.501A>G	XP_005263527.1:p.Pro167=
XM_005263470.5:c.501A>G	XP_005263527.1:p.Pro167=
XM_011541577.1:c.735A>G	XP_011539879.1:p.Pro245=
XM_011541577.2:c.735A>G	XP_011539879.1:p.Pro245=
XM_011541578.1:c.636A>G	XP_011539880.1:p.Pro212=
XM_011541578.2:c.636A>G	XP_011539880.1:p.Pro212=
XM_011541579.1:c.606A>G	XP_011539881.1:p.Pro202=
XM_011541579.3:c.606A>G	XP_011539881.1:p.Pro202=
XM_011541580.1:c.564A>G	XP_011539882.1:p.Pro188=
XM_024447651.1:c.501A>G	XP_024303419.1:p.Pro167=