Canonical Allele Identifier: CA12358515
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1295397
ClinVar RCV Id: RCV001722062
dbSNP Id: rs161057
gnomAD v2: 6-143806551-G-A
gnomAD v3: 6-143485414-G-A
gnomAD v4: 6-143485414-G-A
MyVariant Identifiers: chr6:g.143806551G>A (hg19) chr6:g.143485414G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485414G>A , CM000668.2:g.143485414G>A GRCh38
NC_000006.11:g.143806551G>A , CM000668.1:g.143806551G>A GRCh37
NC_000006.10:g.143848244G>A NCBI36
NG_008459.1:g.39634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+166G>A MANE Select ENSP00000356563.4:n.1038+166G>A
ENST00000367591.4:c.1038+166G>A ENSP00000356563.4:n.1038+166G>A
ENST00000585848.1:n.177+166G>A
NM_003630.2:c.1038+166G>A NP_003621.1:n.1038+166G>A
NM_003630.3:c.1038+166G>A MANE Select NP_003621.1:n.1038+166G>A
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