Canonical Allele Identifier: CA10093249

Gene: PEX26

Linked Data

• ClinVar Variation Id: 1986943
• ClinVar RCV Id: RCV002805638
• dbSNP Id: rs777682317
• ExAC: 22:18561360 A / T
• gnomAD v2: 22-18561360-A-T
• gnomAD v4: 22-18078594-A-T
• MyVariant Identifiers: chr22:g.18561360A>T (hg19) ; chr22:g.18078594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078594A>T , CM000684.2:g.18078594A>T	GRCh38
NC_000022.10:g.18561360A>T , CM000684.1:g.18561360A>T	GRCh37
NC_000022.9:g.16941360A>T	NCBI36
NG_008339.1:g.5675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.218A>T MANE Select	ENSP00000382648.4:p.Glu73Val
ENST00000474897.6:c.218A>T	ENSP00000434235.2:p.Glu73Val
ENST00000329627.11:c.218A>T	ENSP00000331106.5:p.Glu73Val
ENST00000399744.7:c.218A>T	ENSP00000382648.3:p.Glu73Val
ENST00000428061.2:c.218A>T	ENSP00000412441.2:p.Glu73Val
ENST00000474897.5:c.218A>T	ENSP00000434235.1:p.Glu73Val
ENST00000610387.4:c.218A>T	ENSP00000482091.1:p.Glu73Val
NM_001127649.2:c.218A>T	NP_001121121.1:p.Glu73Val
NM_001199319.1:c.218A>T	NP_001186248.1:p.Glu73Val
NM_017929.5:c.218A>T	NP_060399.1:p.Glu73Val
NM_001127649.3:c.218A>T MANE Select	NP_001121121.1:p.Glu73Val
NM_001199319.2:c.218A>T	NP_001186248.1:p.Glu73Val
NM_017929.6:c.218A>T	NP_060399.1:p.Glu73Val