Canonical Allele Identifier: CA410265719

Gene: PEX26

Linked Data

• ClinVar Variation Id: 2490596
• ClinVar RCV Id: RCV003215413
• MyVariant Identifiers: chr22:g.18562714T>C (hg19) ; chr22:g.18079948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18079948T>C , CM000684.2:g.18079948T>C	GRCh38
NC_000022.10:g.18562714T>C , CM000684.1:g.18562714T>C	GRCh37
NC_000022.9:g.16942714T>C	NCBI36
NG_008339.1:g.7029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.305T>C MANE Select	ENSP00000382648.4:p.Val102Ala
ENST00000474897.6:c.305T>C	ENSP00000434235.2:p.Val102Ala
ENST00000329627.11:c.305T>C	ENSP00000331106.5:p.Val102Ala
ENST00000399744.7:c.305T>C	ENSP00000382648.3:p.Val102Ala
ENST00000428061.2:c.305T>C	ENSP00000412441.2:p.Val102Ala
ENST00000474897.5:c.305T>C	ENSP00000434235.1:p.Val102Ala
ENST00000610387.4:c.305T>C	ENSP00000482091.1:p.Val102Ala
NM_001127649.2:c.305T>C	NP_001121121.1:p.Val102Ala
NM_001199319.1:c.305T>C	NP_001186248.1:p.Val102Ala
NM_017929.5:c.305T>C	NP_060399.1:p.Val102Ala
NM_001127649.3:c.305T>C MANE Select	NP_001121121.1:p.Val102Ala
NM_001199319.2:c.305T>C	NP_001186248.1:p.Val102Ala
NM_017929.6:c.305T>C	NP_060399.1:p.Val102Ala