Canonical Allele Identifier: CA2580084109

Gene: PEX16

Linked Data

• ClinVar Variation Id: 2130257
• ClinVar RCV Id: RCV003044444

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910317A>T , CM000673.2:g.45910317A>T	GRCh38
NC_000011.9:g.45931868A>T , CM000673.1:g.45931868A>T	GRCh37
NC_000011.8:g.45888444A>T	NCBI36
NG_008460.1:g.12807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-5T>A MANE Select	ENSP00000368024.5:n.953-5T>A
ENST00000241041.7:c.953-140T>A	ENSP00000241041.3:n.953-140T>A
ENST00000378750.9:c.953-5T>A	ENSP00000368024.5:n.953-5T>A
ENST00000523721.2:n.183-5T>A
ENST00000532681.5:c.668-5T>A	ENSP00000434654.1:n.668-5T>A
NM_004813.2:c.953-5T>A	NP_004804.1:n.953-5T>A
NM_057174.2:c.953-140T>A	NP_476515.1:n.953-140T>A
XM_011520474.1:c.830-5T>A	XP_011518776.1:n.830-5T>A
NM_004813.3:c.953-5T>A	NP_004804.1:n.953-5T>A
NM_004813.4:c.953-5T>A MANE Select	NP_004804.2:n.953-5T>A
NM_057174.3:c.953-140T>A	NP_476515.2:n.953-140T>A