Canonical Allele Identifier: CA584040

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629981G>C , CM000663.2:g.10629981G>C	GRCh38
NC_000001.10:g.10690038G>C , CM000663.1:g.10690038G>C	GRCh37
NC_000001.9:g.10612625G>C	NCBI36
NG_008340.1:g.160036G>C
NG_008340.2:g.160036G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.1128G>C MANE Select	NP_004556.1:p.Arg376=
ENST00000356607.9:c.1128G>C MANE Select	ENSP00000349016.4:p.Arg376=
NM_004565.2:c.1128G>C	NP_004556.1:p.Arg376=
ENST00000356607.8:c.1128G>C	ENSP00000349016.4:p.Arg376=
XM_005263470.3:c.936G>C	XP_005263527.1:p.Arg312=
XM_005263470.5:c.936G>C	XP_005263527.1:p.Arg312=
XM_011541577.1:c.1170G>C	XP_011539879.1:p.Arg390=
XM_011541577.2:c.1170G>C	XP_011539879.1:p.Arg390=
XM_011541578.1:c.1071G>C	XP_011539880.1:p.Arg357=
XM_011541578.2:c.1071G>C	XP_011539880.1:p.Arg357=
XM_011541579.1:c.1041G>C	XP_011539881.1:p.Arg347=
XM_011541579.3:c.1041G>C	XP_011539881.1:p.Arg347=
XM_011541580.1:c.999G>C	XP_011539882.1:p.Arg333=
XM_024447651.1:c.936G>C	XP_024303419.1:p.Arg312=