Canonical Allele Identifier: CA452462448
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485111-G-A
MyVariant Identifiers: chr6:g.143806248G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485111G>A , CM000668.2:g.143485111G>A GRCh38
NC_000006.11:g.143806248G>A , CM000668.1:g.143806248G>A GRCh37
NC_000006.10:g.143847941G>A NCBI36
NG_008459.1:g.39331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.942-41G>A MANE Select ENSP00000356563.4:n.942-41G>A
ENST00000367591.4:c.942-41G>A ENSP00000356563.4:n.942-41G>A
ENST00000585848.1:n.40G>A
NM_003630.2:c.942-41G>A NP_003621.1:n.942-41G>A
NM_003630.3:c.942-41G>A MANE Select NP_003621.1:n.942-41G>A
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