Canonical Allele Identifier: CA380226091

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913889C>A , CM000673.2:g.45913889C>A	GRCh38
NC_000011.9:g.45935440C>A , CM000673.1:g.45935440C>A	GRCh37
NC_000011.8:g.45892016C>A	NCBI36
NG_008460.1:g.9235G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.817G>T MANE Select	NP_004804.2:p.Glu273Ter
ENST00000378750.10:c.817G>T MANE Select	ENSP00000368024.5:p.Glu273Ter
NM_004813.2:c.817G>T	NP_004804.1:p.Glu273Ter
NM_004813.3:c.817G>T	NP_004804.1:p.Glu273Ter
NM_057174.2:c.817G>T	NP_476515.1:p.Glu273Ter
NM_057174.3:c.817G>T	NP_476515.2:p.Glu273Ter
ENST00000241041.7:c.817G>T	ENSP00000241041.3:p.Glu273Ter
ENST00000378750.9:c.817G>T	ENSP00000368024.5:p.Glu273Ter
ENST00000532681.5:c.532G>T	ENSP00000434654.1:p.Glu178Ter
ENST00000533151.5:c.505G>T	ENSP00000433045.1:p.Glu169Ter
XM_011520474.1:c.694G>T	XP_011518776.1:p.Glu232Ter