Canonical Allele Identifier: CA2257586644

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576043G= , CM000679.2:g.35576043G=	GRCh38
NC_000017.10:g.33903062G= , CM000679.1:g.33903062G=	GRCh37
NC_000017.9:g.30927175G=	NCBI36
NG_008447.1:g.7595C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.819C= MANE Select	ENSP00000225873.3:p.Ile273=
ENST00000586663.2:c.819C=	ENSP00000466894.2:p.Ile273=
ENST00000225873.8:c.819C=	ENSP00000225873.3:p.Ile273=
ENST00000586663.1:c.819C=	ENSP00000466894.1:p.Ile273=
ENST00000613219.4:c.819C=	ENSP00000482609.1:p.Ile273=
NM_000286.2:c.819C=	NP_000277.1:p.Ile273=
NM_000286.3:c.819C= MANE Select	NP_000277.1:p.Ile273=