Canonical Allele Identifier: CA10650846

Gene: PEX26

Linked Data

• ClinVar Variation Id: 340745
• ClinVar RCV Id: RCV001559875 ; RCV000383177
• dbSNP Id: rs115617644
• gnomAD v2: 22-18560747-C-T
• gnomAD v3: 22-18077981-C-T
• gnomAD v4: 22-18077981-C-T
• MyVariant Identifiers: chr22:g.18560747C>T (hg19) ; chr22:g.18077981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18077981C>T , CM000684.2:g.18077981C>T	GRCh38
NC_000022.10:g.18560747C>T , CM000684.1:g.18560747C>T	GRCh37
NC_000022.9:g.16940747C>T	NCBI36
NG_008339.1:g.5062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329627.11:c.-148C>T	ENSP00000331106.5:n.-148C>T
ENST00000610387.4:c.-148C>T	ENSP00000482091.1:n.-148C>T
NM_001199319.1:c.-148C>T	NP_001186248.1:n.-148C>T
NM_017929.5:c.-148C>T	NP_060399.1:n.-148C>T