Canonical Allele Identifier: CA10093193

Gene: PEX26

Linked Data

• ClinVar Variation Id: 281576
• ClinVar RCV Id: RCV000407458 ; RCV001039451 ; RCV001142680
• dbSNP Id: rs768425084
• ExAC: 22:18561171 C / T
• gnomAD v2: 22-18561171-C-T
• gnomAD v3: 22-18078405-C-T
• gnomAD v4: 22-18078405-C-T
• MyVariant Identifiers: chr22:g.18561171C>T (hg19) ; chr22:g.18078405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078405C>T , CM000684.2:g.18078405C>T	GRCh38
NC_000022.10:g.18561171C>T , CM000684.1:g.18561171C>T	GRCh37
NC_000022.9:g.16941171C>T	NCBI36
NG_008339.1:g.5486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.29C>T MANE Select	ENSP00000382648.4:p.Ala10Val
ENST00000474897.6:c.29C>T	ENSP00000434235.2:p.Ala10Val
ENST00000329627.11:c.29C>T	ENSP00000331106.5:p.Ala10Val
ENST00000399744.7:c.29C>T	ENSP00000382648.3:p.Ala10Val
ENST00000428061.2:c.29C>T	ENSP00000412441.2:p.Ala10Val
ENST00000474897.5:c.29C>T	ENSP00000434235.1:p.Ala10Val
ENST00000610387.4:c.29C>T	ENSP00000482091.1:p.Ala10Val
NM_001127649.2:c.29C>T	NP_001121121.1:p.Ala10Val
NM_001199319.1:c.29C>T	NP_001186248.1:p.Ala10Val
NM_017929.5:c.29C>T	NP_060399.1:p.Ala10Val
NM_001127649.3:c.29C>T MANE Select	NP_001121121.1:p.Ala10Val
NM_001199319.2:c.29C>T	NP_001186248.1:p.Ala10Val
NM_017929.6:c.29C>T	NP_060399.1:p.Ala10Val