Canonical Allele Identifier: CA2257586471
Gene: PEX12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575950G= , CM000679.2:g.35575950G= GRCh38
NC_000017.10:g.33902969G= , CM000679.1:g.33902969G= GRCh37
NC_000017.9:g.30927082G= NCBI36
NG_008447.1:g.7688C=

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.912C= MANE Select ENSP00000225873.3:p.Cys304=
ENST00000586663.2:c.912C= ENSP00000466894.2:p.Cys304=
ENST00000225873.8:c.912C= ENSP00000225873.3:p.Cys304=
ENST00000586663.1:c.912C= ENSP00000466894.1:p.Cys304=
ENST00000613219.4:c.912C= ENSP00000482609.1:p.Cys304=
NM_000286.2:c.912C= NP_000277.1:p.Cys304=
NM_000286.3:c.912C= MANE Select NP_000277.1:p.Cys304=