Canonical Allele Identifier: CA149043447

Gene: PEX3

Linked Data

• ClinVar Variation Id: 631556
• ClinVar RCV Id: RCV000006998 ; RCV000778169
• dbSNP Id: rs267608193
• gnomAD v4: 6-143485144-T-G
• MyVariant Identifiers: chr6:g.143806281T>G (hg19) ; chr6:g.143485144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143485144T>G , CM000668.2:g.143485144T>G	GRCh38
NC_000006.11:g.143806281T>G , CM000668.1:g.143806281T>G	GRCh37
NC_000006.10:g.143847974T>G	NCBI36
NG_008459.1:g.39364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.942-8T>G MANE Select	ENSP00000356563.4:n.942-8T>G
ENST00000367591.4:c.942-8T>G	ENSP00000356563.4:n.942-8T>G
ENST00000585848.1:n.73T>G
NM_003630.2:c.942-8T>G	NP_003621.1:n.942-8T>G
NM_003630.3:c.942-8T>G MANE Select	NP_003621.1:n.942-8T>G