Canonical Allele Identifier: CA380225657

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913817A>C , CM000673.2:g.45913817A>C	GRCh38
NC_000011.9:g.45935368A>C , CM000673.1:g.45935368A>C	GRCh37
NC_000011.8:g.45891944A>C	NCBI36
NG_008460.1:g.9307T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.887+2T>G MANE Select	NP_004804.2:n.887+2T>G
ENST00000378750.10:c.887+2T>G MANE Select	ENSP00000368024.5:n.887+2T>G
NM_004813.2:c.887+2T>G	NP_004804.1:n.887+2T>G
NM_004813.3:c.887+2T>G	NP_004804.1:n.887+2T>G
NM_057174.2:c.887+2T>G	NP_476515.1:n.887+2T>G
NM_057174.3:c.887+2T>G	NP_476515.2:n.887+2T>G
ENST00000241041.7:c.887+2T>G	ENSP00000241041.3:n.887+2T>G
ENST00000378750.9:c.887+2T>G	ENSP00000368024.5:n.887+2T>G
ENST00000532681.5:c.602+2T>G	ENSP00000434654.1:n.602+2T>G
XM_011520474.1:c.764+2T>G	XP_011518776.1:n.764+2T>G