Canonical Allele Identifier: CA365887381
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485188T>G , CM000668.2:g.143485188T>G GRCh38
NC_000006.11:g.143806325T>G , CM000668.1:g.143806325T>G GRCh37
NC_000006.10:g.143848018T>G NCBI36
NG_008459.1:g.39408T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.978T>G MANE Select ENSP00000356563.4:p.Ile326Met
ENST00000367591.4:c.978T>G ENSP00000356563.4:p.Ile326Met
ENST00000585848.1:n.117T>G
NM_003630.2:c.978T>G NP_003621.1:p.Ile326Met
NM_003630.3:c.978T>G MANE Select NP_003621.1:p.Ile326Met