Canonical Allele Identifier: CA321285522
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18079996C>G
GRCh37 chr22:g.18562762C>G
Revel Score:
ENST00000329627 0.859
ENST00000399744 (MANE Select) 0.859
ENST00000428061 0.859
ENST00000399746 0.859
gnomAD v2:
22:18562762 C / G
gnomAD v3:
22:18079996 C / G
gnomAD v4:
chr22-18079996-C-G
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001779 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18079996C>G , CM000684.2:g.18079996C>G GRCh38
NC_000022.10:g.18562762C>G , CM000684.1:g.18562762C>G GRCh37
NC_000022.9:g.16942762C>G NCBI36
NG_008339.1:g.7077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.353C>G MANE Select ENSP00000382648.4:p.Pro118Arg
ENST00000474897.6:c.353C>G ENSP00000434235.2:p.Pro118Arg
ENST00000329627.11:c.353C>G ENSP00000331106.5:p.Pro118Arg
ENST00000399744.7:c.353C>G ENSP00000382648.3:p.Pro118Arg
ENST00000428061.2:c.353C>G ENSP00000412441.2:p.Pro118Arg
ENST00000474897.5:c.353C>G ENSP00000434235.1:p.Pro118Arg
ENST00000610387.4:c.353C>G ENSP00000482091.1:p.Pro118Arg
NM_001127649.2:c.353C>G NP_001121121.1:p.Pro118Arg
NM_001199319.1:c.353C>G NP_001186248.1:p.Pro118Arg
NM_017929.5:c.353C>G NP_060399.1:p.Pro118Arg
NM_001127649.3:c.353C>G MANE Select NP_001121121.1:p.Pro118Arg
NM_001199319.2:c.353C>G NP_001186248.1:p.Pro118Arg
NM_017929.6:c.353C>G NP_060399.1:p.Pro118Arg
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