Canonical Allele Identifier: CA4029714

Gene: PEX3

Linked Data

• dbSNP Id: rs755215299
• ExAC: 6:143806260 A / G
• gnomAD v2: 6-143806260-A-G
• gnomAD v4: 6-143485123-A-G
• MyVariant Identifiers: chr6:g.143806260A>G (hg19) ; chr6:g.143485123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485123A>G , CM000668.2:g.143485123A>G	GRCh38
NC_000006.11:g.143806260A>G , CM000668.1:g.143806260A>G	GRCh37
NC_000006.10:g.143847953A>G	NCBI36
NG_008459.1:g.39343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.942-29A>G MANE Select	ENSP00000356563.4:n.942-29A>G
ENST00000367591.4:c.942-29A>G	ENSP00000356563.4:n.942-29A>G
ENST00000585848.1:n.52A>G
NM_003630.2:c.942-29A>G	NP_003621.1:n.942-29A>G
NM_003630.3:c.942-29A>G MANE Select	NP_003621.1:n.942-29A>G