Canonical Allele Identifier: CA416034732

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629765C>T , CM000663.2:g.10629765C>T	GRCh38
NC_000001.10:g.10689822C>T , CM000663.1:g.10689822C>T	GRCh37
NC_000001.9:g.10612409C>T	NCBI36
NG_008340.1:g.159820C>T
NG_008340.2:g.159820C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.912C>T MANE Select	NP_004556.1:p.Asp304=
ENST00000356607.9:c.912C>T MANE Select	ENSP00000349016.4:p.Asp304=
NM_004565.2:c.912C>T	NP_004556.1:p.Asp304=
ENST00000356607.8:c.912C>T	ENSP00000349016.4:p.Asp304=
XM_005263470.3:c.720C>T	XP_005263527.1:p.Asp240=
XM_005263470.5:c.720C>T	XP_005263527.1:p.Asp240=
XM_011541577.1:c.954C>T	XP_011539879.1:p.Asp318=
XM_011541577.2:c.954C>T	XP_011539879.1:p.Asp318=
XM_011541578.1:c.855C>T	XP_011539880.1:p.Asp285=
XM_011541578.2:c.855C>T	XP_011539880.1:p.Asp285=
XM_011541579.1:c.825C>T	XP_011539881.1:p.Asp275=
XM_011541579.3:c.825C>T	XP_011539881.1:p.Asp275=
XM_011541580.1:c.783C>T	XP_011539882.1:p.Asp261=
XM_024447651.1:c.720C>T	XP_024303419.1:p.Asp240=