Canonical Allele Identifier: CA2613278555

Gene: PEX16

Linked Data

• ClinVar Variation Id: 2787771
• ClinVar RCV Id: RCV003646054
• gnomAD v4: 11-45910327-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910327G>A , CM000673.2:g.45910327G>A	GRCh38
NC_000011.9:g.45931878G>A , CM000673.1:g.45931878G>A	GRCh37
NC_000011.8:g.45888454G>A	NCBI36
NG_008460.1:g.12797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-15C>T MANE Select	ENSP00000368024.5:n.953-15C>T
ENST00000241041.7:c.953-150C>T	ENSP00000241041.3:n.953-150C>T
ENST00000378750.9:c.953-15C>T	ENSP00000368024.5:n.953-15C>T
ENST00000523721.2:n.183-15C>T
ENST00000532681.5:c.668-15C>T	ENSP00000434654.1:n.668-15C>T
NM_004813.2:c.953-15C>T	NP_004804.1:n.953-15C>T
NM_057174.2:c.953-150C>T	NP_476515.1:n.953-150C>T
XM_011520474.1:c.830-15C>T	XP_011518776.1:n.830-15C>T
NM_004813.3:c.953-15C>T	NP_004804.1:n.953-15C>T
NM_004813.4:c.953-15C>T MANE Select	NP_004804.2:n.953-15C>T
NM_057174.3:c.953-150C>T	NP_476515.2:n.953-150C>T