Canonical Allele Identifier: CA10093230

Gene: PEX26

Linked Data

• dbSNP Id: rs758213085
• ExAC: 22:18561294 T / A
• gnomAD v2: 22-18561294-T-A
• gnomAD v4: 22-18078528-T-A
• MyVariant Identifiers: chr22:g.18561294T>A (hg19) ; chr22:g.18561294_18561295delinsAC (hg19) ; chr22:g.18078528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078528T>A , CM000684.2:g.18078528T>A	GRCh38
NC_000022.10:g.18561294T>A , CM000684.1:g.18561294T>A	GRCh37
NC_000022.9:g.16941294T>A	NCBI36
NG_008339.1:g.5609T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.152T>A MANE Select	ENSP00000382648.4:p.Phe51Tyr
ENST00000474897.6:c.152T>A	ENSP00000434235.2:p.Phe51Tyr
ENST00000329627.11:c.152T>A	ENSP00000331106.5:p.Phe51Tyr
ENST00000399744.7:c.152T>A	ENSP00000382648.3:p.Phe51Tyr
ENST00000428061.2:c.152T>A	ENSP00000412441.2:p.Phe51Tyr
ENST00000474897.5:c.152T>A	ENSP00000434235.1:p.Phe51Tyr
ENST00000610387.4:c.152T>A	ENSP00000482091.1:p.Phe51Tyr
NM_001127649.2:c.152T>A	NP_001121121.1:p.Phe51Tyr
NM_001199319.1:c.152T>A	NP_001186248.1:p.Phe51Tyr
NM_017929.5:c.152T>A	NP_060399.1:p.Phe51Tyr
NM_001127649.3:c.152T>A MANE Select	NP_001121121.1:p.Phe51Tyr
NM_001199319.2:c.152T>A	NP_001186248.1:p.Phe51Tyr
NM_017929.6:c.152T>A	NP_060399.1:p.Phe51Tyr