Canonical Allele Identifier: CA10093453

Gene: PEX26

Linked Data

• ClinVar Variation Id: 287097
• ClinVar RCV Id: RCV000374196 ; RCV000650266 ; RCV001146685 ; RCV003940029
• dbSNP Id: rs17851387
• ExAC: 22:18570834 G / A
• gnomAD v2: 22-18570834-G-A
• gnomAD v3: 22-18088068-G-A
• gnomAD v4: 22-18088068-G-A
• MyVariant Identifiers: chr22:g.18570834G>A (hg19) ; chr22:g.18088068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18088068G>A , CM000684.2:g.18088068G>A	GRCh38
NC_000022.10:g.18570834G>A , CM000684.1:g.18570834G>A	GRCh37
NC_000022.9:g.16950834G>A	NCBI36
NG_008339.1:g.15149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.911G>A MANE Select	ENSP00000382648.4:p.Arg304His
ENST00000474897.6:c.814+2810G>A	ENSP00000434235.2:n.814+2810G>A
ENST00000329627.11:c.911G>A	ENSP00000331106.5:p.Arg304His
ENST00000399744.7:c.911G>A	ENSP00000382648.3:p.Arg304His
ENST00000428061.2:c.764G>A	ENSP00000412441.2:p.Arg255His
ENST00000474897.5:c.371+8054G>A	ENSP00000434235.1:n.371+8054G>A
ENST00000610387.4:c.764G>A	ENSP00000482091.1:p.Arg255His
NM_001127649.2:c.911G>A	NP_001121121.1:p.Arg304His
NM_001199319.1:c.764G>A	NP_001186248.1:p.Arg255His
NM_017929.5:c.911G>A	NP_060399.1:p.Arg304His
NM_001127649.3:c.911G>A MANE Select	NP_001121121.1:p.Arg304His
NM_001199319.2:c.764G>A	NP_001186248.1:p.Arg255His
NM_017929.6:c.911G>A	NP_060399.1:p.Arg304His