Canonical Allele Identifier: CA583846

Gene: PEX14

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10623050G>A , CM000663.2:g.10623050G>A	GRCh38
NC_000001.10:g.10683107G>A , CM000663.1:g.10683107G>A	GRCh37
NC_000001.9:g.10605694G>A	NCBI36
NG_008340.1:g.153105G>A
NG_008340.2:g.153105G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004565.3:c.416G>A MANE Select	NP_004556.1:p.Arg139Gln
ENST00000356607.9:c.416G>A MANE Select	ENSP00000349016.4:p.Arg139Gln
NM_004565.2:c.416G>A	NP_004556.1:p.Arg139Gln
ENST00000356607.8:c.416G>A	ENSP00000349016.4:p.Arg139Gln
ENST00000491661.2:c.401G>A	ENSP00000465473.1:p.Arg134Gln
XM_005263470.3:c.224G>A	XP_005263527.1:p.Arg75Gln
XM_005263470.5:c.224G>A	XP_005263527.1:p.Arg75Gln
XM_011541577.1:c.458G>A	XP_011539879.1:p.Arg153Gln
XM_011541577.2:c.458G>A	XP_011539879.1:p.Arg153Gln
XM_011541578.1:c.359G>A	XP_011539880.1:p.Arg120Gln
XM_011541578.2:c.359G>A	XP_011539880.1:p.Arg120Gln
XM_011541579.1:c.329G>A	XP_011539881.1:p.Arg110Gln
XM_011541579.3:c.329G>A	XP_011539881.1:p.Arg110Gln
XM_011541580.1:c.287G>A	XP_011539882.1:p.Arg96Gln
XM_024447651.1:c.224G>A	XP_024303419.1:p.Arg75Gln