Canonical Allele Identifier: CA380226842

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914184C>T , CM000673.2:g.45914184C>T	GRCh38
NC_000011.9:g.45935735C>T , CM000673.1:g.45935735C>T	GRCh37
NC_000011.8:g.45892311C>T	NCBI36
NG_008460.1:g.8940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.714G>A MANE Select	NP_004804.2:p.Trp238Ter
ENST00000378750.10:c.714G>A MANE Select	ENSP00000368024.5:p.Trp238Ter
NM_004813.2:c.714G>A	NP_004804.1:p.Trp238Ter
NM_004813.3:c.714G>A	NP_004804.1:p.Trp238Ter
NM_057174.2:c.714G>A	NP_476515.1:p.Trp238Ter
NM_057174.3:c.714G>A	NP_476515.2:p.Trp238Ter
ENST00000241041.7:c.714G>A	ENSP00000241041.3:p.Trp238Ter
ENST00000378750.9:c.714G>A	ENSP00000368024.5:p.Trp238Ter
ENST00000525192.5:c.429G>A	ENSP00000431309.1:p.Trp143Ter
ENST00000532554.5:n.485G>A
ENST00000532681.5:c.429G>A	ENSP00000434654.1:p.Trp143Ter
ENST00000533151.5:c.402G>A	ENSP00000433045.1:p.Trp134Ter
XM_011520474.1:c.591G>A	XP_011518776.1:p.Trp197Ter