Canonical Allele Identifier: CA512913111

Gene: PEX26

Linked Data

• dbSNP Id: rs2123643213
• gnomAD v4: 22-18078263-G-T
• MyVariant Identifiers: chr22:g.18561029G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078263G>T , CM000684.2:g.18078263G>T	GRCh38
NC_000022.10:g.18561029G>T , CM000684.1:g.18561029G>T	GRCh37
NC_000022.9:g.16941029G>T	NCBI36
NG_008339.1:g.5344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.-114G>T MANE Select	ENSP00000382648.4:n.-114G>T
ENST00000474897.6:c.-81-33G>T	ENSP00000434235.2:n.-81-33G>T
ENST00000329627.11:c.-81-33G>T	ENSP00000331106.5:n.-81-33G>T
ENST00000399744.7:c.-114G>T	ENSP00000382648.3:n.-114G>T
ENST00000474897.5:c.-114G>T	ENSP00000434235.1:n.-114G>T
ENST00000610387.4:c.-81-33G>T	ENSP00000482091.1:n.-81-33G>T
NM_001127649.2:c.-114G>T	NP_001121121.1:n.-114G>T
NM_001199319.1:c.-81-33G>T	NP_001186248.1:n.-81-33G>T
NM_017929.5:c.-81-33G>T	NP_060399.1:n.-81-33G>T
NM_001127649.3:c.-114G>T MANE Select	NP_001121121.1:n.-114G>T
NM_001199319.2:c.-81-33G>T	NP_001186248.1:n.-81-33G>T
NM_017929.6:c.-81-33G>T	NP_060399.1:n.-81-33G>T