Canonical Allele Identifier: CA10093288
Gene: PEX26 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.18079968T>C
GRCh37 chr22:g.18562734T>C
Revel Score:
ENST00000329627 0.531
ENST00000399744 (MANE Select) 0.531
ENST00000428061 0.531
ENST00000399746 0.531
gnomAD v2:
22:18562734 T / C
gnomAD v3:
22:18079968 T / C
gnomAD v4:
chr22-18079968-T-C
Joint Max Group AF 0.00296344 (NFE)
Genomes Max Group AF 0.00226113 (NFE)
Exomes Max Group AF 0.00298919 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18079968T>C , CM000684.2:g.18079968T>C GRCh38
NC_000022.10:g.18562734T>C , CM000684.1:g.18562734T>C GRCh37
NC_000022.9:g.16942734T>C NCBI36
NG_008339.1:g.7049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.325T>C MANE Select ENSP00000382648.4:p.Tyr109His
ENST00000474897.6:c.325T>C ENSP00000434235.2:p.Tyr109His
ENST00000329627.11:c.325T>C ENSP00000331106.5:p.Tyr109His
ENST00000399744.7:c.325T>C ENSP00000382648.3:p.Tyr109His
ENST00000428061.2:c.325T>C ENSP00000412441.2:p.Tyr109His
ENST00000474897.5:c.325T>C ENSP00000434235.1:p.Tyr109His
ENST00000610387.4:c.325T>C ENSP00000482091.1:p.Tyr109His
NM_001127649.2:c.325T>C NP_001121121.1:p.Tyr109His
NM_001199319.1:c.325T>C NP_001186248.1:p.Tyr109His
NM_017929.5:c.325T>C NP_060399.1:p.Tyr109His
NM_001127649.3:c.325T>C MANE Select NP_001121121.1:p.Tyr109His
NM_001199319.2:c.325T>C NP_001186248.1:p.Tyr109His
NM_017929.6:c.325T>C NP_060399.1:p.Tyr109His
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