Canonical Allele Identifier: CA4029548

Gene: PEX3

Linked Data

• ClinVar Variation Id: 906787
• ClinVar RCV Id: RCV001156181 ; RCV002032439
• dbSNP Id: rs774963514
• ExAC: 6:143792089 T / A
• gnomAD v2: 6-143792089-T-A
• gnomAD v3: 6-143470952-T-A
• gnomAD v4: 6-143470952-T-A
• MyVariant Identifiers: chr6:g.143792089T>A (hg19) ; chr6:g.143470952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143470952T>A , CM000668.2:g.143470952T>A	GRCh38
NC_000006.11:g.143792089T>A , CM000668.1:g.143792089T>A	GRCh37
NC_000006.10:g.143833782T>A	NCBI36
NG_008459.1:g.25172T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.332-9T>A MANE Select	ENSP00000356563.4:n.332-9T>A
ENST00000367591.4:c.332-9T>A	ENSP00000356563.4:n.332-9T>A
ENST00000367592.5:c.200-9T>A	ENSP00000356564.1:n.200-9T>A
NM_003630.2:c.332-9T>A	NP_003621.1:n.332-9T>A
NM_003630.3:c.332-9T>A MANE Select	NP_003621.1:n.332-9T>A