Canonical Allele Identifier: CA1055611
Gene: PEX11B HGNC NCBI

Linked Data

ClinVar Variation Id: 423557
ClinVar RCV Id: RCV000478899
dbSNP Id: rs199515730

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.145912475G>A , CM000663.2:g.145912475G>A GRCh38
NC_000001.10:g.145522605C>T , CM000663.1:g.145522605C>T GRCh37
NC_000001.9:g.144233962C>T NCBI36
NG_033000.3:g.11450C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369306.8:c.466C>T MANE Select ENSP00000358312.3:p.Arg156Ter
ENST00000369306.7:c.466C>T ENSP00000358312.3:p.Arg156Ter
ENST00000537888.1:c.424C>T ENSP00000437510.1:p.Arg142Ter
NM_001184795.1:c.424C>T NP_001171724.1:p.Arg142Ter
NM_003846.2:c.466C>T NP_003837.1:p.Arg156Ter
NR_073491.1:n.698C>T
NR_073492.1:n.692C>T
NR_073493.2:n.914C>T
NM_003846.3:c.466C>T MANE Select NP_003837.1:p.Arg156Ter
NR_073491.2:n.491C>T
NR_073492.2:n.485C>T