Canonical Allele Identifier: CA10093338
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18083562G>A
GRCh37 chr22:g.18566328G>A
Revel Score:
ENST00000329627 0.313
ENST00000399744 (MANE Select) 0.313
ENST00000428061 0.313
ENST00000399746 0.313
gnomAD v2:
22:18566328 G / A
gnomAD v3:
22:18083562 G / A
gnomAD v4:
chr22-18083562-G-A
Joint Max Group AF 0.00239983 (AFR)
Genomes Max Group AF 0.0024666 (AFR)
Exomes Max Group AF 0.00204883 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18083562G>A , CM000684.2:g.18083562G>A GRCh38
NC_000022.10:g.18566328G>A , CM000684.1:g.18566328G>A GRCh37
NC_000022.9:g.16946328G>A NCBI36
NG_008339.1:g.10643G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.497G>A MANE Select ENSP00000382648.4:p.Arg166Gln
ENST00000474897.6:c.497G>A ENSP00000434235.2:p.Arg166Gln
ENST00000329627.11:c.497G>A ENSP00000331106.5:p.Arg166Gln
ENST00000399744.7:c.497G>A ENSP00000382648.3:p.Arg166Gln
ENST00000428061.2:c.497G>A ENSP00000412441.2:p.Arg166Gln
ENST00000474897.5:c.371+3548G>A ENSP00000434235.1:n.371+3548G>A
ENST00000610387.4:c.497G>A ENSP00000482091.1:p.Arg166Gln
NM_001127649.2:c.497G>A NP_001121121.1:p.Arg166Gln
NM_001199319.1:c.497G>A NP_001186248.1:p.Arg166Gln
NM_017929.5:c.497G>A NP_060399.1:p.Arg166Gln
NM_001127649.3:c.497G>A MANE Select NP_001121121.1:p.Arg166Gln
NM_001199319.2:c.497G>A NP_001186248.1:p.Arg166Gln
NM_017929.6:c.497G>A NP_060399.1:p.Arg166Gln
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