Canonical Allele Identifier: CA223510

Gene: PEX26

Linked Data

• ClinVar Variation Id: 95878
• ClinVar RCV Id: RCV000081926 ; RCV002055214
• dbSNP Id: rs398124339
• ExAC: 22:18567879 C / A
• gnomAD v2: 22-18567879-C-A
• gnomAD v3: 22-18085113-C-A
• gnomAD v4: 22-18085113-C-A
• MyVariant Identifiers: chr22:g.18567879C>A (hg19) ; chr22:g.18085113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18085113C>A , CM000684.2:g.18085113C>A	GRCh38
NC_000022.10:g.18567879C>A , CM000684.1:g.18567879C>A	GRCh37
NC_000022.9:g.16947879C>A	NCBI36
NG_008339.1:g.12194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.669C>A MANE Select	ENSP00000382648.4:p.Gly223=
ENST00000474897.6:c.669C>A	ENSP00000434235.2:p.Gly223=
ENST00000329627.11:c.669C>A	ENSP00000331106.5:p.Gly223=
ENST00000399744.7:c.669C>A	ENSP00000382648.3:p.Gly223=
ENST00000428061.2:c.667+1381C>A	ENSP00000412441.2:n.667+1381C>A
ENST00000474897.5:c.371+5099C>A	ENSP00000434235.1:n.371+5099C>A
ENST00000610387.4:c.667+1381C>A	ENSP00000482091.1:n.667+1381C>A
NM_001127649.2:c.669C>A	NP_001121121.1:p.Gly223=
NM_001199319.1:c.667+1381C>A	NP_001186248.1:n.667+1381C>A
NM_017929.5:c.669C>A	NP_060399.1:p.Gly223=
NM_001127649.3:c.669C>A MANE Select	NP_001121121.1:p.Gly223=
NM_001199319.2:c.667+1381C>A	NP_001186248.1:n.667+1381C>A
NM_017929.6:c.669C>A	NP_060399.1:p.Gly223=