Canonical Allele Identifier: CA380223553

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931862C>A (hg19) ; chr11:g.45910311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910311C>A , CM000673.2:g.45910311C>A	GRCh38
NC_000011.9:g.45931862C>A , CM000673.1:g.45931862C>A	GRCh37
NC_000011.8:g.45888438C>A	NCBI36
NG_008460.1:g.12813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.954G>T MANE Select	ENSP00000368024.5:p.Arg318Ser
ENST00000241041.7:c.953-134G>T	ENSP00000241041.3:n.953-134G>T
ENST00000378750.9:c.954G>T	ENSP00000368024.5:p.Arg318Ser
ENST00000523721.2:n.184G>T
ENST00000532681.5:c.669G>T	ENSP00000434654.1:p.Arg223Ser
NM_004813.2:c.954G>T	NP_004804.1:p.Arg318Ser
NM_057174.2:c.953-134G>T	NP_476515.1:n.953-134G>T
XM_011520474.1:c.831G>T	XP_011518776.1:p.Arg277Ser
NM_004813.3:c.954G>T	NP_004804.1:p.Arg318Ser
NM_004813.4:c.954G>T MANE Select	NP_004804.2:p.Arg318Ser
NM_057174.3:c.953-134G>T	NP_476515.2:n.953-134G>T