Canonical Allele Identifier: CA2723705221

Gene: PEX16

Linked Data

• dbSNP Id: rs765121964

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910183G>T , CM000673.2:g.45910183G>T	GRCh38
NC_000011.9:g.45931734G>T , CM000673.1:g.45931734G>T	GRCh37
NC_000011.8:g.45888310G>T	NCBI36
NG_008460.1:g.12941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*71C>A MANE Select	ENSP00000368024.5:n.*71C>A
ENST00000241041.7:c.953-6C>A	ENSP00000241041.3:n.953-6C>A
ENST00000378750.9:c.*71C>A	ENSP00000368024.5:n.*71C>A
ENST00000523721.2:n.312C>A
NM_004813.2:c.*71C>A	NP_004804.1:n.*71C>A
NM_057174.2:c.953-6C>A	NP_476515.1:n.953-6C>A
XM_011520474.1:c.*71C>A	XP_011518776.1:n.*71C>A
NM_004813.3:c.*71C>A	NP_004804.1:n.*71C>A
NM_004813.4:c.*71C>A MANE Select	NP_004804.2:n.*71C>A
NM_057174.3:c.953-6C>A	NP_476515.2:n.953-6C>A