Canonical Allele Identifier: CA415885995

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10624395G>A , CM000663.2:g.10624395G>A	GRCh38
NC_000001.10:g.10684452G>A , CM000663.1:g.10684452G>A	GRCh37
NC_000001.9:g.10607039G>A	NCBI36
NG_008340.1:g.154450G>A
NG_008340.2:g.154450G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.543G>A MANE Select	NP_004556.1:p.Gln181=
ENST00000356607.9:c.543G>A MANE Select	ENSP00000349016.4:p.Gln181=
NM_004565.2:c.543G>A	NP_004556.1:p.Gln181=
ENST00000356607.8:c.543G>A	ENSP00000349016.4:p.Gln181=
XM_005263470.3:c.351G>A	XP_005263527.1:p.Gln117=
XM_005263470.5:c.351G>A	XP_005263527.1:p.Gln117=
XM_011541577.1:c.585G>A	XP_011539879.1:p.Gln195=
XM_011541577.2:c.585G>A	XP_011539879.1:p.Gln195=
XM_011541578.1:c.486G>A	XP_011539880.1:p.Gln162=
XM_011541578.2:c.486G>A	XP_011539880.1:p.Gln162=
XM_011541579.1:c.456G>A	XP_011539881.1:p.Gln152=
XM_011541579.3:c.456G>A	XP_011539881.1:p.Gln152=
XM_011541580.1:c.414G>A	XP_011539882.1:p.Gln138=
XM_024447651.1:c.351G>A	XP_024303419.1:p.Gln117=