Canonical Allele Identifier: CA380228969

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915838T>G , CM000673.2:g.45915838T>G	GRCh38
NC_000011.9:g.45937389T>G , CM000673.1:g.45937389T>G	GRCh37
NC_000011.8:g.45893965T>G	NCBI36
NG_008460.1:g.7286A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.226-2A>C MANE Select	NP_004804.2:n.226-2A>C
ENST00000378750.10:c.226-2A>C MANE Select	ENSP00000368024.5:n.226-2A>C
NM_004813.2:c.226-2A>C	NP_004804.1:n.226-2A>C
NM_004813.3:c.226-2A>C	NP_004804.1:n.226-2A>C
NM_057174.2:c.226-2A>C	NP_476515.1:n.226-2A>C
NM_057174.3:c.226-2A>C	NP_476515.2:n.226-2A>C
ENST00000241041.7:c.226-2A>C	ENSP00000241041.3:n.226-2A>C
ENST00000378750.9:c.226-2A>C	ENSP00000368024.5:n.226-2A>C
ENST00000525192.5:c.-60-2A>C	ENSP00000431309.1:n.-60-2A>C
ENST00000525229.5:c.*179-2A>C	ENSP00000431132.1:n.*179-2A>C
ENST00000528674.5:c.*125-2A>C	ENSP00000434060.1:n.*125-2A>C
ENST00000529030.1:c.*211-2A>C	ENSP00000432486.1:n.*211-2A>C
ENST00000532554.5:n.131-270A>C
ENST00000532681.5:c.-60-2A>C	ENSP00000434654.1:n.-60-2A>C
ENST00000533151.5:c.149-1154A>C	ENSP00000433045.1:n.149-1154A>C
XM_011520474.1:c.103-2A>C	XP_011518776.1:n.103-2A>C