Canonical Allele Identifier: CA410265198

Gene: PEX26

Linked Data

• dbSNP Id: rs774876537
• gnomAD v2: 22-18561329-C-A
• gnomAD v4: 22-18078563-C-A
• MyVariant Identifiers: chr22:g.18561329C>A (hg19) ; chr22:g.18078563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078563C>A , CM000684.2:g.18078563C>A	GRCh38
NC_000022.10:g.18561329C>A , CM000684.1:g.18561329C>A	GRCh37
NC_000022.9:g.16941329C>A	NCBI36
NG_008339.1:g.5644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.187C>A MANE Select	ENSP00000382648.4:p.Gln63Lys
ENST00000474897.6:c.187C>A	ENSP00000434235.2:p.Gln63Lys
ENST00000329627.11:c.187C>A	ENSP00000331106.5:p.Gln63Lys
ENST00000399744.7:c.187C>A	ENSP00000382648.3:p.Gln63Lys
ENST00000428061.2:c.187C>A	ENSP00000412441.2:p.Gln63Lys
ENST00000474897.5:c.187C>A	ENSP00000434235.1:p.Gln63Lys
ENST00000610387.4:c.187C>A	ENSP00000482091.1:p.Gln63Lys
NM_001127649.2:c.187C>A	NP_001121121.1:p.Gln63Lys
NM_001199319.1:c.187C>A	NP_001186248.1:p.Gln63Lys
NM_017929.5:c.187C>A	NP_060399.1:p.Gln63Lys
NM_001127649.3:c.187C>A MANE Select	NP_001121121.1:p.Gln63Lys
NM_001199319.2:c.187C>A	NP_001186248.1:p.Gln63Lys
NM_017929.6:c.187C>A	NP_060399.1:p.Gln63Lys