Canonical Allele Identifier: CA2739270394

Gene: PEX16

Linked Data

• ClinVar Variation Id: 2858180
• ClinVar RCV Id: RCV003646664

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910293C>T , CM000673.2:g.45910293C>T	GRCh38
NC_000011.9:g.45931844C>T , CM000673.1:g.45931844C>T	GRCh37
NC_000011.8:g.45888420C>T	NCBI36
NG_008460.1:g.12831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.972G>A MANE Select	ENSP00000368024.5:p.Leu324=
ENST00000241041.7:c.953-116G>A	ENSP00000241041.3:n.953-116G>A
ENST00000378750.9:c.972G>A	ENSP00000368024.5:p.Leu324=
ENST00000523721.2:n.202G>A
ENST00000532681.5:c.687G>A	ENSP00000434654.1:p.Leu229=
NM_004813.2:c.972G>A	NP_004804.1:p.Leu324=
NM_057174.2:c.953-116G>A	NP_476515.1:n.953-116G>A
XM_011520474.1:c.849G>A	XP_011518776.1:p.Leu283=
NM_004813.3:c.972G>A	NP_004804.1:p.Leu324=
NM_004813.4:c.972G>A MANE Select	NP_004804.2:p.Leu324=
NM_057174.3:c.953-116G>A	NP_476515.2:n.953-116G>A