Canonical Allele Identifier: CA10093453
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18088068G>A
GRCh37 chr22:g.18570834G>A
Revel Score:
ENST00000329627 0.291
ENST00000399744 (MANE Select) 0.291
ENST00000428061 0.291
ENST00000399746 0.121
gnomAD v2:
22:18570834 G / A
gnomAD v3:
22:18088068 G / A
gnomAD v4:
chr22-18088068-G-A
Joint Max Group AF 0.00143022 (NFE)
Genomes Max Group AF 0.00122282 (NFE)
Exomes Max Group AF 0.00143051 (NFE)
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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
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