Canonical Allele Identifier: CA512915365

Gene: PEX26

Linked Data

• ClinVar Variation Id: 596908
• ClinVar RCV Id: RCV000732884 ; RCV003768228
• dbSNP Id: rs1569186417
• MyVariant Identifiers: chr22:g.18562733G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18079967G>A , CM000684.2:g.18079967G>A	GRCh38
NC_000022.10:g.18562733G>A , CM000684.1:g.18562733G>A	GRCh37
NC_000022.9:g.16942733G>A	NCBI36
NG_008339.1:g.7048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.324G>A MANE Select	ENSP00000382648.4:p.Gln108=
ENST00000474897.6:c.324G>A	ENSP00000434235.2:p.Gln108=
ENST00000329627.11:c.324G>A	ENSP00000331106.5:p.Gln108=
ENST00000399744.7:c.324G>A	ENSP00000382648.3:p.Gln108=
ENST00000428061.2:c.324G>A	ENSP00000412441.2:p.Gln108=
ENST00000474897.5:c.324G>A	ENSP00000434235.1:p.Gln108=
ENST00000610387.4:c.324G>A	ENSP00000482091.1:p.Gln108=
NM_001127649.2:c.324G>A	NP_001121121.1:p.Gln108=
NM_001199319.1:c.324G>A	NP_001186248.1:p.Gln108=
NM_017929.5:c.324G>A	NP_060399.1:p.Gln108=
NM_001127649.3:c.324G>A MANE Select	NP_001121121.1:p.Gln108=
NM_001199319.2:c.324G>A	NP_001186248.1:p.Gln108=
NM_017929.6:c.324G>A	NP_060399.1:p.Gln108=