Canonical Allele Identifier: CA8504855
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs765654384

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576158G>A , CM000679.2:g.35576158G>A GRCh38
NC_000017.10:g.33903177G>A , CM000679.1:g.33903177G>A GRCh37
NC_000017.9:g.30927290G>A NCBI36
NG_008447.1:g.7480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.704C>T MANE Select ENSP00000225873.3:p.Ala235Val
ENST00000586663.2:c.704C>T ENSP00000466894.2:p.Ala235Val
ENST00000225873.8:c.704C>T ENSP00000225873.3:p.Ala235Val
ENST00000586663.1:c.704C>T ENSP00000466894.1:p.Ala235Val
ENST00000613219.4:c.704C>T ENSP00000482609.1:p.Ala235Val
NM_000286.2:c.704C>T NP_000277.1:p.Ala235Val
NM_000286.3:c.704C>T MANE Select NP_000277.1:p.Ala235Val