Canonical Allele Identifier: CA5959797

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913847G>A , CM000673.2:g.45913847G>A	GRCh38
NC_000011.9:g.45935398G>A , CM000673.1:g.45935398G>A	GRCh37
NC_000011.8:g.45891974G>A	NCBI36
NG_008460.1:g.9277C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.859C>T MANE Select	NP_004804.2:p.Arg287Cys
ENST00000378750.10:c.859C>T MANE Select	ENSP00000368024.5:p.Arg287Cys
NM_004813.2:c.859C>T	NP_004804.1:p.Arg287Cys
NM_004813.3:c.859C>T	NP_004804.1:p.Arg287Cys
NM_057174.2:c.859C>T	NP_476515.1:p.Arg287Cys
NM_057174.3:c.859C>T	NP_476515.2:p.Arg287Cys
ENST00000241041.7:c.859C>T	ENSP00000241041.3:p.Arg287Cys
ENST00000378750.9:c.859C>T	ENSP00000368024.5:p.Arg287Cys
ENST00000532681.5:c.574C>T	ENSP00000434654.1:p.Arg192Cys
ENST00000533151.5:c.547C>T	ENSP00000433045.1:p.Arg183Cys
XM_011520474.1:c.736C>T	XP_011518776.1:p.Arg246Cys