Canonical Allele Identifier: CA1968698247

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910287G= , CM000673.2:g.45910287G=	GRCh38
NC_000011.9:g.45931838G= , CM000673.1:g.45931838G=	GRCh37
NC_000011.8:g.45888414G=	NCBI36
NG_008460.1:g.12837C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.978C= MANE Select	ENSP00000368024.5:p.Thr326=
ENST00000241041.7:c.953-110C=	ENSP00000241041.3:n.953-110C=
ENST00000378750.9:c.978C=	ENSP00000368024.5:p.Thr326=
ENST00000523721.2:n.208C=
ENST00000532681.5:c.693C=	ENSP00000434654.1:p.Thr231=
NM_004813.2:c.978C=	NP_004804.1:p.Thr326=
NM_057174.2:c.953-110C=	NP_476515.1:n.953-110C=
XM_011520474.1:c.855C=	XP_011518776.1:p.Thr285=
NM_004813.3:c.978C=	NP_004804.1:p.Thr326=
NM_004813.4:c.978C= MANE Select	NP_004804.2:p.Thr326=
NM_057174.3:c.953-110C=	NP_476515.2:n.953-110C=