Canonical Allele Identifier: CA10093165

Gene: PEX26

Linked Data

• dbSNP Id: rs368026843
• ExAC: 22:18560948 C / T
• gnomAD v2: 22-18560948-C-T
• gnomAD v3: 22-18078182-C-T
• gnomAD v4: 22-18078182-C-T
• MyVariant Identifiers: chr22:g.18560948C>T (hg19) ; chr22:g.18078182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18078182C>T , CM000684.2:g.18078182C>T	GRCh38
NC_000022.10:g.18560948C>T , CM000684.1:g.18560948C>T	GRCh37
NC_000022.9:g.16940948C>T	NCBI36
NG_008339.1:g.5263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399744.8:c.-195C>T MANE Select	ENSP00000382648.4:n.-195C>T
ENST00000474897.6:c.-81-114C>T	ENSP00000434235.2:n.-81-114C>T
ENST00000329627.11:c.-81-114C>T	ENSP00000331106.5:n.-81-114C>T
ENST00000399744.7:c.-195C>T	ENSP00000382648.3:n.-195C>T
ENST00000474897.5:c.-195C>T	ENSP00000434235.1:n.-195C>T
ENST00000610387.4:c.-81-114C>T	ENSP00000482091.1:n.-81-114C>T
NM_001127649.2:c.-195C>T	NP_001121121.1:n.-195C>T
NM_001199319.1:c.-81-114C>T	NP_001186248.1:n.-81-114C>T
NM_017929.5:c.-81-114C>T	NP_060399.1:n.-81-114C>T
NM_001127649.3:c.-195C>T MANE Select	NP_001121121.1:n.-195C>T
NM_001199319.2:c.-81-114C>T	NP_001186248.1:n.-81-114C>T
NM_017929.6:c.-81-114C>T	NP_060399.1:n.-81-114C>T