Canonical Allele Identifier: CA5959789
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 282806
dbSNP Id: rs544053792

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45913829G>A , CM000673.2:g.45913829G>A GRCh38
NC_000011.9:g.45935380G>A , CM000673.1:g.45935380G>A GRCh37
NC_000011.8:g.45891956G>A NCBI36
NG_008460.1:g.9295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.877C>T MANE Select ENSP00000368024.5:p.Arg293Cys
ENST00000241041.7:c.877C>T ENSP00000241041.3:p.Arg293Cys
ENST00000378750.9:c.877C>T ENSP00000368024.5:p.Arg293Cys
ENST00000532681.5:c.592C>T ENSP00000434654.1:p.Arg198Cys
NM_004813.2:c.877C>T NP_004804.1:p.Arg293Cys
NM_057174.2:c.877C>T NP_476515.1:p.Arg293Cys
XM_011520474.1:c.754C>T XP_011518776.1:p.Arg252Cys
NM_004813.3:c.877C>T NP_004804.1:p.Arg293Cys
NM_004813.4:c.877C>T MANE Select NP_004804.2:p.Arg293Cys
NM_057174.3:c.877C>T NP_476515.2:p.Arg293Cys