Canonical Allele Identifier: CA584015

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629849T>C , CM000663.2:g.10629849T>C	GRCh38
NC_000001.10:g.10689906T>C , CM000663.1:g.10689906T>C	GRCh37
NC_000001.9:g.10612493T>C	NCBI36
NG_008340.1:g.159904T>C
NG_008340.2:g.159904T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.996T>C MANE Select	NP_004556.1:p.Asp332=
ENST00000356607.9:c.996T>C MANE Select	ENSP00000349016.4:p.Asp332=
NM_004565.2:c.996T>C	NP_004556.1:p.Asp332=
ENST00000356607.8:c.996T>C	ENSP00000349016.4:p.Asp332=
XM_005263470.3:c.804T>C	XP_005263527.1:p.Asp268=
XM_005263470.5:c.804T>C	XP_005263527.1:p.Asp268=
XM_011541577.1:c.1038T>C	XP_011539879.1:p.Asp346=
XM_011541577.2:c.1038T>C	XP_011539879.1:p.Asp346=
XM_011541578.1:c.939T>C	XP_011539880.1:p.Asp313=
XM_011541578.2:c.939T>C	XP_011539880.1:p.Asp313=
XM_011541579.1:c.909T>C	XP_011539881.1:p.Asp303=
XM_011541579.3:c.909T>C	XP_011539881.1:p.Asp303=
XM_011541580.1:c.867T>C	XP_011539882.1:p.Asp289=
XM_024447651.1:c.804T>C	XP_024303419.1:p.Asp268=