Canonical Allele Identifier: CA380230321

Gene: PEX16

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45917491G>A , CM000673.2:g.45917491G>A	GRCh38
NC_000011.9:g.45939042G>A , CM000673.1:g.45939042G>A	GRCh37
NC_000011.8:g.45895618G>A	NCBI36
NG_008460.1:g.5633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.115C>T MANE Select	ENSP00000368024.5:p.Arg39Ter
ENST00000241041.7:c.115C>T	ENSP00000241041.3:p.Arg39Ter
ENST00000378750.9:c.115C>T	ENSP00000368024.5:p.Arg39Ter
ENST00000525192.5:c.-171C>T	ENSP00000431309.1:n.-171C>T
ENST00000525229.5:c.*68C>T	ENSP00000431132.1:n.*68C>T
ENST00000528674.5:c.41C>T	ENSP00000434060.1:p.Ser14Leu
ENST00000529030.1:c.115C>T	ENSP00000432486.1:p.Arg39Ter
ENST00000532554.5:n.97C>T
ENST00000532681.5:c.-171C>T	ENSP00000434654.1:n.-171C>T
ENST00000533151.5:c.115C>T	ENSP00000433045.1:p.Arg39Ter
NM_004813.2:c.115C>T	NP_004804.1:p.Arg39Ter
NM_057174.2:c.115C>T	NP_476515.1:p.Arg39Ter
NM_004813.3:c.115C>T	NP_004804.1:p.Arg39Ter
NM_004813.4:c.115C>T MANE Select	NP_004804.2:p.Arg39Ter
NM_057174.3:c.115C>T	NP_476515.2:p.Arg39Ter