Canonical Allele Identifier: CA338334198

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10624405C>A , CM000663.2:g.10624405C>A	GRCh38
NC_000001.10:g.10684462C>A , CM000663.1:g.10684462C>A	GRCh37
NC_000001.9:g.10607049C>A	NCBI36
NG_008340.1:g.154460C>A
NG_008340.2:g.154460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356607.9:c.553C>A MANE Select	ENSP00000349016.4:p.Gln185Lys
ENST00000356607.8:c.553C>A	ENSP00000349016.4:p.Gln185Lys
NM_004565.2:c.553C>A	NP_004556.1:p.Gln185Lys
XM_005263470.3:c.361C>A	XP_005263527.1:p.Gln121Lys
XM_011541577.1:c.595C>A	XP_011539879.1:p.Gln199Lys
XM_011541578.1:c.496C>A	XP_011539880.1:p.Gln166Lys
XM_011541579.1:c.466C>A	XP_011539881.1:p.Gln156Lys
XM_011541580.1:c.424C>A	XP_011539882.1:p.Gln142Lys
XM_005263470.5:c.361C>A	XP_005263527.1:p.Gln121Lys
XM_011541577.2:c.595C>A	XP_011539879.1:p.Gln199Lys
XM_011541578.2:c.496C>A	XP_011539880.1:p.Gln166Lys
XM_011541579.3:c.466C>A	XP_011539881.1:p.Gln156Lys
XM_024447651.1:c.361C>A	XP_024303419.1:p.Gln121Lys
NM_004565.3:c.553C>A MANE Select	NP_004556.1:p.Gln185Lys