Canonical Allele Identifier: CA8504851
Gene: PEX12 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs12941376

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576129A>T , CM000679.2:g.35576129A>T GRCh38
NC_000017.10:g.33903148A>T , CM000679.1:g.33903148A>T GRCh37
NC_000017.9:g.30927261A>T NCBI36
NG_008447.1:g.7509T>A

Transcript Alleles

HGVS Amino-acid change
NM_000286.2:c.733T>A VV NP_000277.1:p.Leu245Ile
NM_000286.3:c.733T>A VV MANE Preferred NP_000277.1:p.Leu245Ile
ENST00000225873.8:c.733T>A ENSP00000225873.3:p.Leu245Ile
ENST00000586663.1:c.733T>A ENSP00000466894.1:p.Leu245Ile
ENST00000613219.4:c.733T>A ENSP00000482609.1:p.Leu245Ile