Canonical Allele Identifier: CA10093441
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18088039A>G
GRCh37 chr22:g.18570805A>G
Revel Score:
ENST00000399746 0.025
gnomAD v2:
22:18570805 A / G
gnomAD v3:
22:18088039 A / G
gnomAD v4:
chr22-18088039-A-G
Joint Max Group AF 0.00236103 (AMR)
Genomes Max Group AF 0.00086823 (AMR)
Exomes Max Group AF 0.00274955 (AMR)
ClinVar RCV:
RCV000598530
RCV001082778
ClinVar Variation:
500389
dbSNP:
751507771
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18088039A>G , CM000684.2:g.18088039A>G GRCh38
NC_000022.10:g.18570805A>G , CM000684.1:g.18570805A>G GRCh37
NC_000022.9:g.16950805A>G NCBI36
NG_008339.1:g.15120A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.882A>G MANE Select ENSP00000382648.4:p.Ala294=
ENST00000474897.6:c.814+2781A>G ENSP00000434235.2:n.814+2781A>G
ENST00000329627.11:c.882A>G ENSP00000331106.5:p.Ala294=
ENST00000399744.7:c.882A>G ENSP00000382648.3:p.Ala294=
ENST00000428061.2:c.735A>G ENSP00000412441.2:p.Ala245=
ENST00000474897.5:c.371+8025A>G ENSP00000434235.1:n.371+8025A>G
ENST00000610387.4:c.735A>G ENSP00000482091.1:p.Ala245=
NM_001127649.2:c.882A>G NP_001121121.1:p.Ala294=
NM_001199319.1:c.735A>G NP_001186248.1:p.Ala245=
NM_017929.5:c.882A>G NP_060399.1:p.Ala294=
NM_001127649.3:c.882A>G MANE Select NP_001121121.1:p.Ala294=
NM_001199319.2:c.735A>G NP_001186248.1:p.Ala245=
NM_017929.6:c.882A>G NP_060399.1:p.Ala294=
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