Canonical Allele Identifier: CA2257586807

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576122A= , CM000679.2:g.35576122A=	GRCh38
NC_000017.10:g.33903141A= , CM000679.1:g.33903141A=	GRCh37
NC_000017.9:g.30927254A=	NCBI36
NG_008447.1:g.7516T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.740T= MANE Select	ENSP00000225873.3:p.Leu247=
ENST00000586663.2:c.740T=	ENSP00000466894.2:p.Leu247=
ENST00000225873.8:c.740T=	ENSP00000225873.3:p.Leu247=
ENST00000586663.1:c.740T=	ENSP00000466894.1:p.Leu247=
ENST00000613219.4:c.740T=	ENSP00000482609.1:p.Leu247=
NM_000286.2:c.740T=	NP_000277.1:p.Leu247=
NM_000286.3:c.740T= MANE Select	NP_000277.1:p.Leu247=