Canonical Allele Identifier: CA393801108
Gene: PEX11A HGNC NCBI
WDR93 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89690608T>G
GRCh37 chr15:g.90233839T>G
Revel Score:
ENST00000300056 (MANE Select) 0.206
gnomAD v2:
15:90233839 T / G
gnomAD v4:
chr15-89690608-T-G
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV004105807
ClinVar Variation:
2243168
dbSNP:
1282406720
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89690608T>G , CM000677.2:g.89690608T>G GRCh38
NC_000015.9:g.90233839T>G , CM000677.1:g.90233839T>G GRCh37
NC_000015.8:g.88034843T>G NCBI36
NG_051641.1:g.5535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300056.8:c.25A>C (PEX11A) MANE Select ENSP00000300056.3:p.Asn9His
ENST00000300056.7:c.25A>C (PEX11A) ENSP00000300056.3:p.Asn9His
ENST00000557982.1:n.175A>C (PEX11A)
ENST00000559170.1:c.25A>C (PEX11A) ENSP00000453878.1:p.Asn9His
ENST00000561224.5:c.25A>C (PEX11A) ENSP00000453552.1:p.Asn9His
ENST00000561257.1:c.25A>C (PEX11A) ENSP00000453492.1:p.Asn9His
NM_001271572.1:c.25A>C (PEX11A) NP_001258501.1:p.Asn9His
NM_001271573.1:c.-295A>C (PEX11A) NP_001258502.1:n.-295A>C
NM_003847.2:c.25A>C (PEX11A) NP_003838.1:p.Asn9His
XM_011521794.1:c.-41+195T>G (WDR93) XP_011520096.1:n.-41+195T>G
XM_011521794.2:c.-41+195T>G (WDR93) XP_011520096.1:n.-41+195T>G
NM_003847.3:c.25A>C (PEX11A) MANE Select NP_003838.1:p.Asn9His
NM_001271572.2:c.25A>C (PEX11A) NP_001258501.1:p.Asn9His
NM_001271573.2:c.-295A>C (PEX11A) NP_001258502.1:n.-295A>C
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