Canonical Allele Identifier: CA5959900

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914398C>T , CM000673.2:g.45914398C>T	GRCh38
NC_000011.9:g.45935949C>T , CM000673.1:g.45935949C>T	GRCh37
NC_000011.8:g.45892525C>T	NCBI36
NG_008460.1:g.8726G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.612G>A MANE Select	NP_004804.2:p.Glu204=
ENST00000378750.10:c.612G>A MANE Select	ENSP00000368024.5:p.Glu204=
NM_004813.2:c.612G>A	NP_004804.1:p.Glu204=
NM_004813.3:c.612G>A	NP_004804.1:p.Glu204=
NM_057174.2:c.612G>A	NP_476515.1:p.Glu204=
NM_057174.3:c.612G>A	NP_476515.2:p.Glu204=
ENST00000241041.7:c.612G>A	ENSP00000241041.3:p.Glu204=
ENST00000378750.9:c.612G>A	ENSP00000368024.5:p.Glu204=
ENST00000525192.5:c.327G>A	ENSP00000431309.1:p.Glu109=
ENST00000527371.1:n.228G>A
ENST00000532554.5:n.383G>A
ENST00000532681.5:c.327G>A	ENSP00000434654.1:p.Glu109=
ENST00000533151.5:c.300G>A	ENSP00000433045.1:p.Glu100=
XM_011520474.1:c.489G>A	XP_011518776.1:p.Glu163=