Canonical Allele Identifier: CA1968698172

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910142T= , CM000673.2:g.45910142T=	GRCh38
NC_000011.9:g.45931693T= , CM000673.1:g.45931693T=	GRCh37
NC_000011.8:g.45888269T=	NCBI36
NG_008460.1:g.12982A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*112A= MANE Select	ENSP00000368024.5:n.*112A=
ENST00000241041.7:c.988A=	ENSP00000241041.3:p.Arg330=
NM_004813.2:c.*112A=	NP_004804.1:n.*112A=
NM_057174.2:c.988A=	NP_476515.1:p.Arg330=
NM_004813.3:c.*112A=	NP_004804.1:n.*112A=
NM_004813.4:c.*112A= MANE Select	NP_004804.2:n.*112A=
NM_057174.3:c.988A=	NP_476515.2:p.Arg330=