Canonical Allele Identifier: CA4029518
Gene: PEX3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143463006A>G , CM000668.2:g.143463006A>G GRCh38
NC_000006.11:g.143784143A>G , CM000668.1:g.143784143A>G GRCh37
NC_000006.10:g.143825836A>G NCBI36
NG_008459.1:g.17226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.287+9A>G MANE Select ENSP00000356563.4:n.287+9A>G
ENST00000367591.4:c.287+9A>G ENSP00000356563.4:n.287+9A>G
ENST00000367592.5:c.155+9A>G ENSP00000356564.1:n.155+9A>G
NM_003630.2:c.287+9A>G NP_003621.1:n.287+9A>G
NM_003630.3:c.287+9A>G MANE Select NP_003621.1:n.287+9A>G