Canonical Allele Identifier: CA10621541

Gene: PEX3

Linked Data

• ClinVar Variation Id: 355579
• ClinVar RCV Id: RCV000386612 ; RCV003430920
• dbSNP Id: rs117247312
• gnomAD v2: 6-143810583-G-A
• gnomAD v3: 6-143489446-G-A
• gnomAD v4: 6-143489446-G-A
• MyVariant Identifiers: chr6:g.143810583G>A (hg19) ; chr6:g.143489446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143489446G>A , CM000668.2:g.143489446G>A	GRCh38
NC_000006.11:g.143810583G>A , CM000668.1:g.143810583G>A	GRCh37
NC_000006.10:g.143852276G>A	NCBI36
NG_008459.1:g.43666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.*220G>A MANE Select	ENSP00000356563.4:n.*220G>A
ENST00000367591.4:c.*220G>A	ENSP00000356563.4:n.*220G>A
NM_003630.2:c.*220G>A	NP_003621.1:n.*220G>A
NM_003630.3:c.*220G>A MANE Select	NP_003621.1:n.*220G>A