Canonical Allele Identifier: CA5959716
Gene: PEX16 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910259C>G , CM000673.2:g.45910259C>G GRCh38
NC_000011.9:g.45931810C>G , CM000673.1:g.45931810C>G GRCh37
NC_000011.8:g.45888386C>G NCBI36
NG_008460.1:g.12865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.1006G>C MANE Select ENSP00000368024.5:p.Gly336Arg
ENST00000241041.7:c.953-82G>C ENSP00000241041.3:n.953-82G>C
ENST00000378750.9:c.1006G>C ENSP00000368024.5:p.Gly336Arg
ENST00000523721.2:n.236G>C
ENST00000532681.5:c.721G>C ENSP00000434654.1:p.Gly241Arg
NM_004813.2:c.1006G>C NP_004804.1:p.Gly336Arg
NM_057174.2:c.953-82G>C NP_476515.1:n.953-82G>C
XM_011520474.1:c.883G>C XP_011518776.1:p.Gly295Arg
NM_004813.3:c.1006G>C NP_004804.1:p.Gly336Arg
NM_004813.4:c.1006G>C MANE Select NP_004804.2:p.Gly336Arg
NM_057174.3:c.953-82G>C NP_476515.2:n.953-82G>C