Canonical Allele Identifier: CA380229280

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45916305T>C , CM000673.2:g.45916305T>C	GRCh38
NC_000011.9:g.45937856T>C , CM000673.1:g.45937856T>C	GRCh37
NC_000011.8:g.45894432T>C	NCBI36
NG_008460.1:g.6819A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.149-2A>G MANE Select	NP_004804.2:n.149-2A>G
ENST00000378750.10:c.149-2A>G MANE Select	ENSP00000368024.5:n.149-2A>G
NM_004813.2:c.149-2A>G	NP_004804.1:n.149-2A>G
NM_004813.3:c.149-2A>G	NP_004804.1:n.149-2A>G
NM_057174.2:c.149-2A>G	NP_476515.1:n.149-2A>G
NM_057174.3:c.149-2A>G	NP_476515.2:n.149-2A>G
ENST00000241041.7:c.149-2A>G	ENSP00000241041.3:n.149-2A>G
ENST00000378750.9:c.149-2A>G	ENSP00000368024.5:n.149-2A>G
ENST00000525192.5:c.-137-2A>G	ENSP00000431309.1:n.-137-2A>G
ENST00000525229.5:c.*102-2A>G	ENSP00000431132.1:n.*102-2A>G
ENST00000528674.5:c.*48-2A>G	ENSP00000434060.1:n.*48-2A>G
ENST00000529030.1:c.*134-2A>G	ENSP00000432486.1:n.*134-2A>G
ENST00000532554.5:n.131-737A>G
ENST00000532681.5:c.-137-2A>G	ENSP00000434654.1:n.-137-2A>G
ENST00000533151.5:c.148+1153A>G	ENSP00000433045.1:n.148+1153A>G
XM_011520474.1:c.26-2A>G	XP_011518776.1:n.26-2A>G