Canonical Allele Identifier: CA913189281

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915463C>T , CM000673.2:g.45915463C>T	GRCh38
NC_000011.9:g.45937014C>T , CM000673.1:g.45937014C>T	GRCh37
NC_000011.8:g.45893590C>T	NCBI36
NG_008460.1:g.7661G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.460+5G>A MANE Select	NP_004804.2:n.460+5G>A
ENST00000378750.10:c.460+5G>A MANE Select	ENSP00000368024.5:n.460+5G>A
NM_004813.2:c.460+5G>A	NP_004804.1:n.460+5G>A
NM_004813.3:c.460+5G>A	NP_004804.1:n.460+5G>A
NM_057174.2:c.460+5G>A	NP_476515.1:n.460+5G>A
NM_057174.3:c.460+5G>A	NP_476515.2:n.460+5G>A
ENST00000241041.7:c.460+5G>A	ENSP00000241041.3:n.460+5G>A
ENST00000378750.9:c.460+5G>A	ENSP00000368024.5:n.460+5G>A
ENST00000525192.5:c.175+5G>A	ENSP00000431309.1:n.175+5G>A
ENST00000527371.1:n.76+5G>A
ENST00000532554.5:n.231+5G>A
ENST00000532681.5:c.175+5G>A	ENSP00000434654.1:n.175+5G>A
ENST00000533151.5:c.149-779G>A	ENSP00000433045.1:n.149-779G>A
XM_011520474.1:c.337+5G>A	XP_011518776.1:n.337+5G>A