Canonical Allele Identifier: CA380226926

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914331G>C , CM000673.2:g.45914331G>C	GRCh38
NC_000011.9:g.45935882G>C , CM000673.1:g.45935882G>C	GRCh37
NC_000011.8:g.45892458G>C	NCBI36
NG_008460.1:g.8793C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.679C>G MANE Select	NP_004804.2:p.Arg227Gly
ENST00000378750.10:c.679C>G MANE Select	ENSP00000368024.5:p.Arg227Gly
NM_004813.2:c.679C>G	NP_004804.1:p.Arg227Gly
NM_004813.3:c.679C>G	NP_004804.1:p.Arg227Gly
NM_057174.2:c.679C>G	NP_476515.1:p.Arg227Gly
NM_057174.3:c.679C>G	NP_476515.2:p.Arg227Gly
ENST00000241041.7:c.679C>G	ENSP00000241041.3:p.Arg227Gly
ENST00000378750.9:c.679C>G	ENSP00000368024.5:p.Arg227Gly
ENST00000525192.5:c.394C>G	ENSP00000431309.1:p.Arg132Gly
ENST00000527371.1:n.295C>G
ENST00000532554.5:n.450C>G
ENST00000532681.5:c.394C>G	ENSP00000434654.1:p.Arg132Gly
ENST00000533151.5:c.367C>G	ENSP00000433045.1:p.Arg123Gly
XM_011520474.1:c.556C>G	XP_011518776.1:p.Arg186Gly