Canonical Allele Identifier: CA2581613560
Gene: PEX3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143470941C>T , CM000668.2:g.143470941C>T GRCh38
NC_000006.11:g.143792078C>T , CM000668.1:g.143792078C>T GRCh37
NC_000006.10:g.143833771C>T NCBI36
NG_008459.1:g.25161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.332-20C>T MANE Select ENSP00000356563.4:n.332-20C>T
ENST00000367591.4:c.332-20C>T ENSP00000356563.4:n.332-20C>T
ENST00000367592.5:c.200-20C>T ENSP00000356564.1:n.200-20C>T
NM_003630.2:c.332-20C>T NP_003621.1:n.332-20C>T
NM_003630.3:c.332-20C>T MANE Select NP_003621.1:n.332-20C>T