Canonical Allele Identifier: CA245382

Gene: PEX26

Linked Data

• ClinVar Variation Id: 197316
• ClinVar RCV Id: RCV000178314 ; RCV000302632 ; RCV000983944 ; RCV003927659
• dbSNP Id: rs138232280
• ExAC: 22:18566474 G / A
• gnomAD v2: 22-18566474-G-A
• gnomAD v3: 22-18083708-G-A
• gnomAD v4: 22-18083708-G-A
• MyVariant Identifiers: chr22:g.18566474G>A (hg19) ; chr22:g.18083708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18083708G>A , CM000684.2:g.18083708G>A	GRCh38
NC_000022.10:g.18566474G>A , CM000684.1:g.18566474G>A	GRCh37
NC_000022.9:g.16946474G>A	NCBI36
NG_008339.1:g.10789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.643G>A MANE Select	ENSP00000382648.4:p.Glu215Lys
ENST00000474897.6:c.643G>A	ENSP00000434235.2:p.Glu215Lys
ENST00000329627.11:c.643G>A	ENSP00000331106.5:p.Glu215Lys
ENST00000399744.7:c.643G>A	ENSP00000382648.3:p.Glu215Lys
ENST00000428061.2:c.643G>A	ENSP00000412441.2:p.Glu215Lys
ENST00000474897.5:c.371+3694G>A	ENSP00000434235.1:n.371+3694G>A
ENST00000610387.4:c.643G>A	ENSP00000482091.1:p.Glu215Lys
NM_001127649.2:c.643G>A	NP_001121121.1:p.Glu215Lys
NM_001199319.1:c.643G>A	NP_001186248.1:p.Glu215Lys
NM_017929.5:c.643G>A	NP_060399.1:p.Glu215Lys
NM_001127649.3:c.643G>A MANE Select	NP_001121121.1:p.Glu215Lys
NM_001199319.2:c.643G>A	NP_001186248.1:p.Glu215Lys
NM_017929.6:c.643G>A	NP_060399.1:p.Glu215Lys