Canonical Allele Identifier: CA4029590

Gene: PEX3

Linked Data

• ClinVar Variation Id: 291279
• ClinVar RCV Id: RCV000274339 ; RCV000317753
• dbSNP Id: rs199781957
• ExAC: 6:143792536 C / G
• gnomAD v2: 6-143792536-C-G
• gnomAD v3: 6-143471399-C-G
• gnomAD v4: 6-143471399-C-G
• MyVariant Identifiers: chr6:g.143792536C>G (hg19) ; chr6:g.143471399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143471399C>G , CM000668.2:g.143471399C>G	GRCh38
NC_000006.11:g.143792536C>G , CM000668.1:g.143792536C>G	GRCh37
NC_000006.10:g.143834229C>G	NCBI36
NG_008459.1:g.25619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.473C>G MANE Select	ENSP00000356563.4:p.Pro158Arg
ENST00000367591.4:c.473C>G	ENSP00000356563.4:p.Pro158Arg
ENST00000367592.5:c.341C>G	ENSP00000356564.1:p.Pro114Arg
NM_003630.2:c.473C>G	NP_003621.1:p.Pro158Arg
NM_003630.3:c.473C>G MANE Select	NP_003621.1:p.Pro158Arg