Canonical Allele Identifier: CA380225820

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913846C>T , CM000673.2:g.45913846C>T	GRCh38
NC_000011.9:g.45935397C>T , CM000673.1:g.45935397C>T	GRCh37
NC_000011.8:g.45891973C>T	NCBI36
NG_008460.1:g.9278G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.860G>A MANE Select	NP_004804.2:p.Arg287His
ENST00000378750.10:c.860G>A MANE Select	ENSP00000368024.5:p.Arg287His
NM_004813.2:c.860G>A	NP_004804.1:p.Arg287His
NM_004813.3:c.860G>A	NP_004804.1:p.Arg287His
NM_057174.2:c.860G>A	NP_476515.1:p.Arg287His
NM_057174.3:c.860G>A	NP_476515.2:p.Arg287His
ENST00000241041.7:c.860G>A	ENSP00000241041.3:p.Arg287His
ENST00000378750.9:c.860G>A	ENSP00000368024.5:p.Arg287His
ENST00000532681.5:c.575G>A	ENSP00000434654.1:p.Arg192His
ENST00000533151.5:c.548G>A	ENSP00000433045.1:p.Arg183His
XM_011520474.1:c.737G>A	XP_011518776.1:p.Arg246His