Canonical Allele Identifier: CA8504836
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736300
ClinVar RCV Id: RCV003535203
dbSNP Id: rs765449979

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576046G>C , CM000679.2:g.35576046G>C GRCh38
NC_000017.10:g.33903065G>C , CM000679.1:g.33903065G>C GRCh37
NC_000017.9:g.30927178G>C NCBI36
NG_008447.1:g.7592C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.816C>G MANE Select ENSP00000225873.3:p.Thr272=
ENST00000586663.2:c.816C>G ENSP00000466894.2:p.Thr272=
ENST00000225873.8:c.816C>G ENSP00000225873.3:p.Thr272=
ENST00000586663.1:c.816C>G ENSP00000466894.1:p.Thr272=
ENST00000613219.4:c.816C>G ENSP00000482609.1:p.Thr272=
NM_000286.2:c.816C>G NP_000277.1:p.Thr272=
NM_000286.3:c.816C>G MANE Select NP_000277.1:p.Thr272=