Canonical Allele Identifier: CA380223151

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931814A>T (hg19) ; chr11:g.45910263A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910263A>T , CM000673.2:g.45910263A>T	GRCh38
NC_000011.9:g.45931814A>T , CM000673.1:g.45931814A>T	GRCh37
NC_000011.8:g.45888390A>T	NCBI36
NG_008460.1:g.12861T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.1002T>A MANE Select	ENSP00000368024.5:p.Ser334Arg
ENST00000241041.7:c.953-86T>A	ENSP00000241041.3:n.953-86T>A
ENST00000378750.9:c.1002T>A	ENSP00000368024.5:p.Ser334Arg
ENST00000523721.2:n.232T>A
ENST00000532681.5:c.717T>A	ENSP00000434654.1:p.Ser239Arg
NM_004813.2:c.1002T>A	NP_004804.1:p.Ser334Arg
NM_057174.2:c.953-86T>A	NP_476515.1:n.953-86T>A
XM_011520474.1:c.879T>A	XP_011518776.1:p.Ser293Arg
NM_004813.3:c.1002T>A	NP_004804.1:p.Ser334Arg
NM_004813.4:c.1002T>A MANE Select	NP_004804.2:p.Ser334Arg
NM_057174.3:c.953-86T>A	NP_476515.2:n.953-86T>A