Canonical Allele Identifier: CA5959847

Gene: PEX16

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914172C>T , CM000673.2:g.45914172C>T	GRCh38
NC_000011.9:g.45935723C>T , CM000673.1:g.45935723C>T	GRCh37
NC_000011.8:g.45892299C>T	NCBI36
NG_008460.1:g.8952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.726G>A MANE Select	ENSP00000368024.5:p.Ser242=
ENST00000241041.7:c.726G>A	ENSP00000241041.3:p.Ser242=
ENST00000378750.9:c.726G>A	ENSP00000368024.5:p.Ser242=
ENST00000525192.5:c.441G>A	ENSP00000431309.1:p.Ser147=
ENST00000532554.5:n.497G>A
ENST00000532681.5:c.441G>A	ENSP00000434654.1:p.Ser147=
ENST00000533151.5:c.414G>A	ENSP00000433045.1:p.Ser138=
NM_004813.2:c.726G>A	NP_004804.1:p.Ser242=
NM_057174.2:c.726G>A	NP_476515.1:p.Ser242=
XM_011520474.1:c.603G>A	XP_011518776.1:p.Ser201=
NM_004813.3:c.726G>A	NP_004804.1:p.Ser242=
NM_004813.4:c.726G>A MANE Select	NP_004804.2:p.Ser242=
NM_057174.3:c.726G>A	NP_476515.2:p.Ser242=