Canonical Allele Identifier: CA10093234

Gene: PEX26

Linked Data

• dbSNP Id: rs776229764
• ExAC: 22:18561305 C / G
• gnomAD v2: 22-18561305-C-G
• MyVariant Identifiers: chr22:g.18561305C>G (hg19) ; chr22:g.18078539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078539C>G , CM000684.2:g.18078539C>G	GRCh38
NC_000022.10:g.18561305C>G , CM000684.1:g.18561305C>G	GRCh37
NC_000022.9:g.16941305C>G	NCBI36
NG_008339.1:g.5620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.163C>G MANE Select	ENSP00000382648.4:p.Leu55Val
ENST00000474897.6:c.163C>G	ENSP00000434235.2:p.Leu55Val
ENST00000329627.11:c.163C>G	ENSP00000331106.5:p.Leu55Val
ENST00000399744.7:c.163C>G	ENSP00000382648.3:p.Leu55Val
ENST00000428061.2:c.163C>G	ENSP00000412441.2:p.Leu55Val
ENST00000474897.5:c.163C>G	ENSP00000434235.1:p.Leu55Val
ENST00000610387.4:c.163C>G	ENSP00000482091.1:p.Leu55Val
NM_001127649.2:c.163C>G	NP_001121121.1:p.Leu55Val
NM_001199319.1:c.163C>G	NP_001186248.1:p.Leu55Val
NM_017929.5:c.163C>G	NP_060399.1:p.Leu55Val
NM_001127649.3:c.163C>G MANE Select	NP_001121121.1:p.Leu55Val
NM_001199319.2:c.163C>G	NP_001186248.1:p.Leu55Val
NM_017929.6:c.163C>G	NP_060399.1:p.Leu55Val