Canonical Allele Identifier: CA365887375
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485187T>A , CM000668.2:g.143485187T>A GRCh38
NC_000006.11:g.143806324T>A , CM000668.1:g.143806324T>A GRCh37
NC_000006.10:g.143848017T>A NCBI36
NG_008459.1:g.39407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.977T>A MANE Select ENSP00000356563.4:p.Ile326Asn
ENST00000367591.4:c.977T>A ENSP00000356563.4:p.Ile326Asn
ENST00000585848.1:n.116T>A
NM_003630.2:c.977T>A NP_003621.1:p.Ile326Asn
NM_003630.3:c.977T>A MANE Select NP_003621.1:p.Ile326Asn