Canonical Allele Identifier: CA1968698256
Gene: PEX16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910305G= , CM000673.2:g.45910305G= GRCh38
NC_000011.9:g.45931856G= , CM000673.1:g.45931856G= GRCh37
NC_000011.8:g.45888432G= NCBI36
NG_008460.1:g.12819C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.960C= MANE Select ENSP00000368024.5:p.Leu320=
ENST00000241041.7:c.953-128C= ENSP00000241041.3:n.953-128C=
ENST00000378750.9:c.960C= ENSP00000368024.5:p.Leu320=
ENST00000523721.2:n.190C=
ENST00000532681.5:c.675C= ENSP00000434654.1:p.Leu225=
NM_004813.2:c.960C= NP_004804.1:p.Leu320=
NM_057174.2:c.953-128C= NP_476515.1:n.953-128C=
XM_011520474.1:c.837C= XP_011518776.1:p.Leu279=
NM_004813.3:c.960C= NP_004804.1:p.Leu320=
NM_004813.4:c.960C= MANE Select NP_004804.2:p.Leu320=
NM_057174.3:c.953-128C= NP_476515.2:n.953-128C=