Canonical Allele Identifier: CA16609230
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 390240
dbSNP Id: rs1057523689

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485201G>A , CM000668.2:g.143485201G>A GRCh38
NC_000006.11:g.143806338G>A , CM000668.1:g.143806338G>A GRCh37
NC_000006.10:g.143848031G>A NCBI36
NG_008459.1:g.39421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.991G>A MANE Select ENSP00000356563.4:p.Gly331Arg
ENST00000367591.4:c.991G>A ENSP00000356563.4:p.Gly331Arg
ENST00000585848.1:n.130G>A
NM_003630.2:c.991G>A NP_003621.1:p.Gly331Arg
NM_003630.3:c.991G>A MANE Select NP_003621.1:p.Gly331Arg