Canonical Allele Identifier: CA512912763

Gene: PEX26

Linked Data

• dbSNP Id: rs1259710750
• gnomAD v2: 22-18560981-G-A
• MyVariant Identifiers: chr22:g.18560981G>A (hg19) ; chr22:g.18078215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078215G>A , CM000684.2:g.18078215G>A	GRCh38
NC_000022.10:g.18560981G>A , CM000684.1:g.18560981G>A	GRCh37
NC_000022.9:g.16940981G>A	NCBI36
NG_008339.1:g.5296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.-162G>A MANE Select	ENSP00000382648.4:n.-162G>A
ENST00000474897.6:c.-81-81G>A	ENSP00000434235.2:n.-81-81G>A
ENST00000329627.11:c.-81-81G>A	ENSP00000331106.5:n.-81-81G>A
ENST00000399744.7:c.-162G>A	ENSP00000382648.3:n.-162G>A
ENST00000474897.5:c.-162G>A	ENSP00000434235.1:n.-162G>A
ENST00000610387.4:c.-81-81G>A	ENSP00000482091.1:n.-81-81G>A
NM_001127649.2:c.-162G>A	NP_001121121.1:n.-162G>A
NM_001199319.1:c.-81-81G>A	NP_001186248.1:n.-81-81G>A
NM_017929.5:c.-81-81G>A	NP_060399.1:n.-81-81G>A
NM_001127649.3:c.-162G>A MANE Select	NP_001121121.1:n.-162G>A
NM_001199319.2:c.-81-81G>A	NP_001186248.1:n.-81-81G>A
NM_017929.6:c.-81-81G>A	NP_060399.1:n.-81-81G>A