Canonical Allele Identifier: CA221587450

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45913932G>A , CM000673.2:g.45913932G>A	GRCh38
NC_000011.9:g.45935483G>A , CM000673.1:g.45935483G>A	GRCh37
NC_000011.8:g.45892059G>A	NCBI36
NG_008460.1:g.9192C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.774C>T MANE Select	NP_004804.2:p.Ser258=
ENST00000378750.10:c.774C>T MANE Select	ENSP00000368024.5:p.Ser258=
NM_004813.2:c.774C>T	NP_004804.1:p.Ser258=
NM_004813.3:c.774C>T	NP_004804.1:p.Ser258=
NM_057174.2:c.774C>T	NP_476515.1:p.Ser258=
NM_057174.3:c.774C>T	NP_476515.2:p.Ser258=
ENST00000241041.7:c.774C>T	ENSP00000241041.3:p.Ser258=
ENST00000378750.9:c.774C>T	ENSP00000368024.5:p.Ser258=
ENST00000532681.5:c.489C>T	ENSP00000434654.1:p.Ser163=
ENST00000533151.5:c.462C>T	ENSP00000433045.1:p.Ser154=
XM_011520474.1:c.651C>T	XP_011518776.1:p.Ser217=