Canonical Allele Identifier: CA365887704
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485238A>G , CM000668.2:g.143485238A>G GRCh38
NC_000006.11:g.143806375A>G , CM000668.1:g.143806375A>G GRCh37
NC_000006.10:g.143848068A>G NCBI36
NG_008459.1:g.39458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1028A>G MANE Select ENSP00000356563.4:p.His343Arg
ENST00000367591.4:c.1028A>G ENSP00000356563.4:p.His343Arg
ENST00000585848.1:n.167A>G
NM_003630.2:c.1028A>G NP_003621.1:p.His343Arg
NM_003630.3:c.1028A>G MANE Select NP_003621.1:p.His343Arg