Canonical Allele Identifier: CA5960013

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915702C>T , CM000673.2:g.45915702C>T	GRCh38
NC_000011.9:g.45937253C>T , CM000673.1:g.45937253C>T	GRCh37
NC_000011.8:g.45893829C>T	NCBI36
NG_008460.1:g.7422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.359+1G>A MANE Select	NP_004804.2:n.359+1G>A
ENST00000378750.10:c.359+1G>A MANE Select	ENSP00000368024.5:n.359+1G>A
NM_004813.2:c.359+1G>A	NP_004804.1:n.359+1G>A
NM_004813.3:c.359+1G>A	NP_004804.1:n.359+1G>A
NM_057174.2:c.359+1G>A	NP_476515.1:n.359+1G>A
NM_057174.3:c.359+1G>A	NP_476515.2:n.359+1G>A
ENST00000241041.7:c.359+1G>A	ENSP00000241041.3:n.359+1G>A
ENST00000378750.9:c.359+1G>A	ENSP00000368024.5:n.359+1G>A
ENST00000525192.5:c.74+1G>A	ENSP00000431309.1:n.74+1G>A
ENST00000525229.5:c.*312+1G>A	ENSP00000431132.1:n.*312+1G>A
ENST00000528674.5:c.*258+1G>A	ENSP00000434060.1:n.*258+1G>A
ENST00000532554.5:n.131-134G>A
ENST00000532681.5:c.74+1G>A	ENSP00000434654.1:n.74+1G>A
ENST00000533151.5:c.149-1018G>A	ENSP00000433045.1:n.149-1018G>A
XM_011520474.1:c.236+1G>A	XP_011518776.1:n.236+1G>A