Canonical Allele Identifier: CA119067
Gene: PEX12 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7775
dbSNP Id: rs28936697

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575903G>A , CM000679.2:g.35575903G>A GRCh38
NC_000017.10:g.33902922G>A , CM000679.1:g.33902922G>A GRCh37
NC_000017.9:g.30927035G>A NCBI36
NG_008447.1:g.7735C>T

Transcript Alleles

HGVS Amino-acid change
NM_000286.2:c.959C>T VV NP_000277.1:p.Ser320Phe
NM_000286.3:c.959C>T VV MANE Preferred NP_000277.1:p.Ser320Phe
ENST00000225873.8:c.959C>T ENSP00000225873.3:p.Ser320Phe
ENST00000586663.1:c.959C>T ENSP00000466894.1:p.Ser320Phe
ENST00000613219.4:c.959C>T ENSP00000482609.1:p.Ser320Phe