Canonical Allele Identifier: CA5959912

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914418G>A , CM000673.2:g.45914418G>A	GRCh38
NC_000011.9:g.45935969G>A , CM000673.1:g.45935969G>A	GRCh37
NC_000011.8:g.45892545G>A	NCBI36
NG_008460.1:g.8706C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.592C>T MANE Select	NP_004804.2:p.Arg198Trp
ENST00000378750.10:c.592C>T MANE Select	ENSP00000368024.5:p.Arg198Trp
NM_004813.2:c.592C>T	NP_004804.1:p.Arg198Trp
NM_004813.3:c.592C>T	NP_004804.1:p.Arg198Trp
NM_057174.2:c.592C>T	NP_476515.1:p.Arg198Trp
NM_057174.3:c.592C>T	NP_476515.2:p.Arg198Trp
ENST00000241041.7:c.592C>T	ENSP00000241041.3:p.Arg198Trp
ENST00000378750.9:c.592C>T	ENSP00000368024.5:p.Arg198Trp
ENST00000525192.5:c.307C>T	ENSP00000431309.1:p.Arg103Trp
ENST00000527371.1:n.208C>T
ENST00000532554.5:n.363C>T
ENST00000532681.5:c.307C>T	ENSP00000434654.1:p.Arg103Trp
ENST00000533151.5:c.280C>T	ENSP00000433045.1:p.Arg94Trp
XM_011520474.1:c.469C>T	XP_011518776.1:p.Arg157Trp