Canonical Allele Identifier: CA119063

Gene: PEX12

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576171T>A , CM000679.2:g.35576171T>A	GRCh38
NC_000017.10:g.33903190T>A , CM000679.1:g.33903190T>A	GRCh37
NC_000017.9:g.30927303T>A	NCBI36
NG_008447.1:g.7467A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000286.3:c.691A>T MANE Select	NP_000277.1:p.Lys231Ter
ENST00000225873.9:c.691A>T MANE Select	ENSP00000225873.3:p.Lys231Ter
NM_000286.2:c.691A>T	NP_000277.1:p.Lys231Ter
ENST00000225873.8:c.691A>T	ENSP00000225873.3:p.Lys231Ter
ENST00000586663.1:c.691A>T	ENSP00000466894.1:p.Lys231Ter
ENST00000586663.2:c.691A>T	ENSP00000466894.2:p.Lys231Ter
ENST00000613219.4:c.691A>T	ENSP00000482609.1:p.Lys231Ter