Canonical Allele Identifier: CA321283956

Gene: PEX26

Linked Data

• dbSNP Id: rs369701603
• gnomAD v2: 22-18560919-C-G
• gnomAD v3: 22-18078153-C-G
• gnomAD v4: 22-18078153-C-G
• MyVariant Identifiers: chr22:g.18560919C>G (hg19) ; chr22:g.18078153C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078153C>G , CM000684.2:g.18078153C>G	GRCh38
NC_000022.10:g.18560919C>G , CM000684.1:g.18560919C>G	GRCh37
NC_000022.9:g.16940919C>G	NCBI36
NG_008339.1:g.5234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.-224C>G MANE Select	ENSP00000382648.4:n.-224C>G
ENST00000474897.6:c.-82+106C>G	ENSP00000434235.2:n.-82+106C>G
ENST00000329627.11:c.-82+106C>G	ENSP00000331106.5:n.-82+106C>G
ENST00000399744.7:c.-224C>G	ENSP00000382648.3:n.-224C>G
ENST00000474897.5:c.-224C>G	ENSP00000434235.1:n.-224C>G
ENST00000610387.4:c.-82+106C>G	ENSP00000482091.1:n.-82+106C>G
NM_001127649.2:c.-224C>G	NP_001121121.1:n.-224C>G
NM_001199319.1:c.-82+106C>G	NP_001186248.1:n.-82+106C>G
NM_017929.5:c.-82+106C>G	NP_060399.1:n.-82+106C>G
NM_001127649.3:c.-224C>G MANE Select	NP_001121121.1:n.-224C>G
NM_001199319.2:c.-82+106C>G	NP_001186248.1:n.-82+106C>G
NM_017929.6:c.-82+106C>G	NP_060399.1:n.-82+106C>G