Canonical Allele Identifier: CA410265173

Gene: PEX26

Linked Data

• ClinVar Variation Id: 496444
• ClinVar RCV Id: RCV000589459 ; RCV003767341
• dbSNP Id: rs1556586479
• gnomAD v4: 22-18078561-G-A
• MyVariant Identifiers: chr22:g.18561327G>A (hg19) ; chr22:g.18078561G>A (hg38)
• PubMed: PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078561G>A , CM000684.2:g.18078561G>A	GRCh38
NC_000022.10:g.18561327G>A , CM000684.1:g.18561327G>A	GRCh37
NC_000022.9:g.16941327G>A	NCBI36
NG_008339.1:g.5642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.185G>A MANE Select	ENSP00000382648.4:p.Trp62Ter
ENST00000474897.6:c.185G>A	ENSP00000434235.2:p.Trp62Ter
ENST00000329627.11:c.185G>A	ENSP00000331106.5:p.Trp62Ter
ENST00000399744.7:c.185G>A	ENSP00000382648.3:p.Trp62Ter
ENST00000428061.2:c.185G>A	ENSP00000412441.2:p.Trp62Ter
ENST00000474897.5:c.185G>A	ENSP00000434235.1:p.Trp62Ter
ENST00000610387.4:c.185G>A	ENSP00000482091.1:p.Trp62Ter
NM_001127649.2:c.185G>A	NP_001121121.1:p.Trp62Ter
NM_001199319.1:c.185G>A	NP_001186248.1:p.Trp62Ter
NM_017929.5:c.185G>A	NP_060399.1:p.Trp62Ter
NM_001127649.3:c.185G>A MANE Select	NP_001121121.1:p.Trp62Ter
NM_001199319.2:c.185G>A	NP_001186248.1:p.Trp62Ter
NM_017929.6:c.185G>A	NP_060399.1:p.Trp62Ter