Canonical Allele Identifier: CA4029510

Gene: PEX3

Linked Data

• ClinVar Variation Id: 355576
• ClinVar RCV Id: RCV000260163 ; RCV000887892
• dbSNP Id: rs139760270
• ExAC: 6:143784096 A / G
• gnomAD v2: 6-143784096-A-G
• gnomAD v3: 6-143462959-A-G
• gnomAD v4: 6-143462959-A-G
• MyVariant Identifiers: chr6:g.143784096A>G (hg19) ; chr6:g.143462959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143462959A>G , CM000668.2:g.143462959A>G	GRCh38
NC_000006.11:g.143784096A>G , CM000668.1:g.143784096A>G	GRCh37
NC_000006.10:g.143825789A>G	NCBI36
NG_008459.1:g.17179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.249A>G MANE Select	ENSP00000356563.4:p.Gln83=
ENST00000367591.4:c.249A>G	ENSP00000356563.4:p.Gln83=
ENST00000367592.5:c.117A>G	ENSP00000356564.1:p.Gln39=
NM_003630.2:c.249A>G	NP_003621.1:p.Gln83=
NM_003630.3:c.249A>G MANE Select	NP_003621.1:p.Gln83=