Canonical Allele Identifier: CA399137466
Gene: PEX12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576113C>T , CM000679.2:g.35576113C>T GRCh38
NC_000017.10:g.33903132C>T , CM000679.1:g.33903132C>T GRCh37
NC_000017.9:g.30927245C>T NCBI36
NG_008447.1:g.7525G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.749G>A MANE Select ENSP00000225873.3:p.Gly250Asp
ENST00000586663.2:c.749G>A ENSP00000466894.2:p.Gly250Asp
ENST00000225873.8:c.749G>A ENSP00000225873.3:p.Gly250Asp
ENST00000586663.1:c.749G>A ENSP00000466894.1:p.Gly250Asp
ENST00000613219.4:c.749G>A ENSP00000482609.1:p.Gly250Asp
NM_000286.2:c.749G>A NP_000277.1:p.Gly250Asp
NM_000286.3:c.749G>A MANE Select NP_000277.1:p.Gly250Asp