Canonical Allele Identifier: CA10093203

Gene: PEX26

Linked Data

• ClinVar Variation Id: 1569936
• ClinVar RCV Id: RCV002221054
• dbSNP Id: rs753275056
• ExAC: 22:18561181 G / A
• gnomAD v2: 22-18561181-G-A
• gnomAD v4: 22-18078415-G-A
• MyVariant Identifiers: chr22:g.18561181G>A (hg19) ; chr22:g.18078415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078415G>A , CM000684.2:g.18078415G>A	GRCh38
NC_000022.10:g.18561181G>A , CM000684.1:g.18561181G>A	GRCh37
NC_000022.9:g.16941181G>A	NCBI36
NG_008339.1:g.5496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.39G>A MANE Select	ENSP00000382648.4:p.Arg13=
ENST00000474897.6:c.39G>A	ENSP00000434235.2:p.Arg13=
ENST00000329627.11:c.39G>A	ENSP00000331106.5:p.Arg13=
ENST00000399744.7:c.39G>A	ENSP00000382648.3:p.Arg13=
ENST00000428061.2:c.39G>A	ENSP00000412441.2:p.Arg13=
ENST00000474897.5:c.39G>A	ENSP00000434235.1:p.Arg13=
ENST00000610387.4:c.39G>A	ENSP00000482091.1:p.Arg13=
NM_001127649.2:c.39G>A	NP_001121121.1:p.Arg13=
NM_001199319.1:c.39G>A	NP_001186248.1:p.Arg13=
NM_017929.5:c.39G>A	NP_060399.1:p.Arg13=
NM_001127649.3:c.39G>A MANE Select	NP_001121121.1:p.Arg13=
NM_001199319.2:c.39G>A	NP_001186248.1:p.Arg13=
NM_017929.6:c.39G>A	NP_060399.1:p.Arg13=