Canonical Allele Identifier: CA380223413

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931842G>T (hg19) ; chr11:g.45910291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910291G>T , CM000673.2:g.45910291G>T	GRCh38
NC_000011.9:g.45931842G>T , CM000673.1:g.45931842G>T	GRCh37
NC_000011.8:g.45888418G>T	NCBI36
NG_008460.1:g.12833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.974C>A MANE Select	ENSP00000368024.5:p.Pro325His
ENST00000241041.7:c.953-114C>A	ENSP00000241041.3:n.953-114C>A
ENST00000378750.9:c.974C>A	ENSP00000368024.5:p.Pro325His
ENST00000523721.2:n.204C>A
ENST00000532681.5:c.689C>A	ENSP00000434654.1:p.Pro230His
NM_004813.2:c.974C>A	NP_004804.1:p.Pro325His
NM_057174.2:c.953-114C>A	NP_476515.1:n.953-114C>A
XM_011520474.1:c.851C>A	XP_011518776.1:p.Pro284His
NM_004813.3:c.974C>A	NP_004804.1:p.Pro325His
NM_004813.4:c.974C>A MANE Select	NP_004804.2:p.Pro325His
NM_057174.3:c.953-114C>A	NP_476515.2:n.953-114C>A