Canonical Allele Identifier: CA2791291457

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910376C>G , CM000673.2:g.45910376C>G	GRCh38
NC_000011.9:g.45931927C>G , CM000673.1:g.45931927C>G	GRCh37
NC_000011.8:g.45888503C>G	NCBI36
NG_008460.1:g.12748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-64G>C MANE Select	ENSP00000368024.5:n.953-64G>C
ENST00000241041.7:c.953-199G>C	ENSP00000241041.3:n.953-199G>C
ENST00000378750.9:c.953-64G>C	ENSP00000368024.5:n.953-64G>C
ENST00000523721.2:n.183-64G>C
ENST00000532681.5:c.668-64G>C	ENSP00000434654.1:n.668-64G>C
NM_004813.2:c.953-64G>C	NP_004804.1:n.953-64G>C
NM_057174.2:c.953-199G>C	NP_476515.1:n.953-199G>C
XM_011520474.1:c.830-64G>C	XP_011518776.1:n.830-64G>C
NM_004813.3:c.953-64G>C	NP_004804.1:n.953-64G>C
NM_004813.4:c.953-64G>C MANE Select	NP_004804.2:n.953-64G>C
NM_057174.3:c.953-199G>C	NP_476515.2:n.953-199G>C