Canonical Allele Identifier: CA513184600

Gene: PEX26

Linked Data

• dbSNP Id: rs747273337
• gnomAD v2: 22-18561136-A-T
• gnomAD v3: 22-18078370-A-T
• gnomAD v4: 22-18078370-A-T
• MyVariant Identifiers: chr22:g.18561136A>T (hg19) ; chr22:g.18078370A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078370A>T , CM000684.2:g.18078370A>T	GRCh38
NC_000022.10:g.18561136A>T , CM000684.1:g.18561136A>T	GRCh37
NC_000022.9:g.16941136A>T	NCBI36
NG_008339.1:g.5451A>T

Transcript Alleles

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