Canonical Allele Identifier: CA115377
Gene: PEX26 HGNC NCBI

Linked Data

ClinVar Variation Id: 2159
dbSNP Id: rs267608190

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18078607G>T , CM000684.2:g.18078607G>T GRCh38
NC_000022.10:g.18561373G>T , CM000684.1:g.18561373G>T GRCh37
NC_000022.9:g.16941373G>T NCBI36
NG_008339.1:g.5688G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399744.8:c.230+1G>T MANE Select ENSP00000382648.4:n.230+1G>T
ENST00000474897.6:c.230+1G>T ENSP00000434235.2:n.230+1G>T
ENST00000329627.11:c.230+1G>T ENSP00000331106.5:n.230+1G>T
ENST00000399744.7:c.230+1G>T ENSP00000382648.3:n.230+1G>T
ENST00000428061.2:c.230+1G>T ENSP00000412441.2:n.230+1G>T
ENST00000474897.5:c.230+1G>T ENSP00000434235.1:n.230+1G>T
ENST00000610387.4:c.230+1G>T ENSP00000482091.1:n.230+1G>T
NM_001127649.2:c.230+1G>T NP_001121121.1:n.230+1G>T
NM_001199319.1:c.230+1G>T NP_001186248.1:n.230+1G>T
NM_017929.5:c.230+1G>T NP_060399.1:n.230+1G>T
NM_001127649.3:c.230+1G>T MANE Select NP_001121121.1:n.230+1G>T
NM_001199319.2:c.230+1G>T NP_001186248.1:n.230+1G>T
NM_017929.6:c.230+1G>T NP_060399.1:n.230+1G>T