Canonical Allele Identifier: CA584032

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10629954C>T , CM000663.2:g.10629954C>T	GRCh38
NC_000001.10:g.10690011C>T , CM000663.1:g.10690011C>T	GRCh37
NC_000001.9:g.10612598C>T	NCBI36
NG_008340.1:g.160009C>T
NG_008340.2:g.160009C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.1101C>T MANE Select	NP_004556.1:p.Pro367=
ENST00000356607.9:c.1101C>T MANE Select	ENSP00000349016.4:p.Pro367=
NM_004565.2:c.1101C>T	NP_004556.1:p.Pro367=
ENST00000356607.8:c.1101C>T	ENSP00000349016.4:p.Pro367=
XM_005263470.3:c.909C>T	XP_005263527.1:p.Pro303=
XM_005263470.5:c.909C>T	XP_005263527.1:p.Pro303=
XM_011541577.1:c.1143C>T	XP_011539879.1:p.Pro381=
XM_011541577.2:c.1143C>T	XP_011539879.1:p.Pro381=
XM_011541578.1:c.1044C>T	XP_011539880.1:p.Pro348=
XM_011541578.2:c.1044C>T	XP_011539880.1:p.Pro348=
XM_011541579.1:c.1014C>T	XP_011539881.1:p.Pro338=
XM_011541579.3:c.1014C>T	XP_011539881.1:p.Pro338=
XM_011541580.1:c.972C>T	XP_011539882.1:p.Pro324=
XM_024447651.1:c.909C>T	XP_024303419.1:p.Pro303=