Canonical Allele Identifier: CA658799484

Gene: PEX26

Linked Data

• ClinVar Variation Id: 501838
• ClinVar RCV Id: RCV000591178 ; RCV002532627
• dbSNP Id: rs1556590594
• MyVariant Identifiers: chr22:g.18570732C>T (hg19) ; chr22:g.18087966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18087966C>T , CM000684.2:g.18087966C>T	GRCh38
NC_000022.10:g.18570732C>T , CM000684.1:g.18570732C>T	GRCh37
NC_000022.9:g.16950732C>T	NCBI36
NG_008339.1:g.15047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.815-6C>T MANE Select	ENSP00000382648.4:n.815-6C>T
ENST00000474897.6:c.814+2708C>T	ENSP00000434235.2:n.814+2708C>T
ENST00000329627.11:c.815-6C>T	ENSP00000331106.5:n.815-6C>T
ENST00000399744.7:c.815-6C>T	ENSP00000382648.3:n.815-6C>T
ENST00000428061.2:c.668-6C>T	ENSP00000412441.2:n.668-6C>T
ENST00000474897.5:c.371+7952C>T	ENSP00000434235.1:n.371+7952C>T
ENST00000610387.4:c.668-6C>T	ENSP00000482091.1:n.668-6C>T
NM_001127649.2:c.815-6C>T	NP_001121121.1:n.815-6C>T
NM_001199319.1:c.668-6C>T	NP_001186248.1:n.668-6C>T
NM_017929.5:c.815-6C>T	NP_060399.1:n.815-6C>T
NM_001127649.3:c.815-6C>T MANE Select	NP_001121121.1:n.815-6C>T
NM_001199319.2:c.668-6C>T	NP_001186248.1:n.668-6C>T
NM_017929.6:c.815-6C>T	NP_060399.1:n.815-6C>T