Canonical Allele Identifier: CA2739270395

Gene: PEX16

Linked Data

• ClinVar Variation Id: 2845187
• ClinVar RCV Id: RCV003646542

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910299A>G , CM000673.2:g.45910299A>G	GRCh38
NC_000011.9:g.45931850A>G , CM000673.1:g.45931850A>G	GRCh37
NC_000011.8:g.45888426A>G	NCBI36
NG_008460.1:g.12825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.966T>C MANE Select	ENSP00000368024.5:p.Asp322=
ENST00000241041.7:c.953-122T>C	ENSP00000241041.3:n.953-122T>C
ENST00000378750.9:c.966T>C	ENSP00000368024.5:p.Asp322=
ENST00000523721.2:n.196T>C
ENST00000532681.5:c.681T>C	ENSP00000434654.1:p.Asp227=
NM_004813.2:c.966T>C	NP_004804.1:p.Asp322=
NM_057174.2:c.953-122T>C	NP_476515.1:n.953-122T>C
XM_011520474.1:c.843T>C	XP_011518776.1:p.Asp281=
NM_004813.3:c.966T>C	NP_004804.1:p.Asp322=
NM_004813.4:c.966T>C MANE Select	NP_004804.2:p.Asp322=
NM_057174.3:c.953-122T>C	NP_476515.2:n.953-122T>C