Canonical Allele Identifier: CA2257586891
Gene: PEX12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576169C= , CM000679.2:g.35576169C= GRCh38
NC_000017.10:g.33903188C= , CM000679.1:g.33903188C= GRCh37
NC_000017.9:g.30927301C= NCBI36
NG_008447.1:g.7469G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.693G= MANE Select ENSP00000225873.3:p.Lys231=
ENST00000586663.2:c.693G= ENSP00000466894.2:p.Lys231=
ENST00000225873.8:c.693G= ENSP00000225873.3:p.Lys231=
ENST00000586663.1:c.693G= ENSP00000466894.1:p.Lys231=
ENST00000613219.4:c.693G= ENSP00000482609.1:p.Lys231=
NM_000286.2:c.693G= NP_000277.1:p.Lys231=
NM_000286.3:c.693G= MANE Select NP_000277.1:p.Lys231=