Canonical Allele Identifier: CA393800086

Gene: PEX11A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89683648T>A , CM000677.2:g.89683648T>A	GRCh38
NC_000015.9:g.90226879T>A , CM000677.1:g.90226879T>A	GRCh37
NC_000015.8:g.88027883T>A	NCBI36
NG_029172.1:g.770A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003847.3:c.473A>T MANE Select	NP_003838.1:p.Lys158Ile
ENST00000300056.8:c.473A>T MANE Select	ENSP00000300056.3:p.Lys158Ile
NM_001271572.1:c.380A>T	NP_001258501.1:p.Lys127Ile
NM_001271572.2:c.380A>T	NP_001258501.1:p.Lys127Ile
NM_001271573.1:c.38A>T	NP_001258502.1:p.Lys13Ile
NM_001271573.2:c.38A>T	NP_001258502.1:p.Lys13Ile
NM_003847.2:c.473A>T	NP_003838.1:p.Lys158Ile
ENST00000300056.7:c.473A>T	ENSP00000300056.3:p.Lys158Ile
ENST00000557982.1:n.207-2108A>T
ENST00000559170.1:c.*258A>T	ENSP00000453878.1:n.*258A>T
ENST00000561224.5:c.173-2108A>T	ENSP00000453552.1:n.173-2108A>T
ENST00000561257.1:c.380A>T	ENSP00000453492.1:p.Lys127Ile