Canonical Allele Identifier: CA2574806423

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910342G>C , CM000673.2:g.45910342G>C	GRCh38
NC_000011.9:g.45931893G>C , CM000673.1:g.45931893G>C	GRCh37
NC_000011.8:g.45888469G>C	NCBI36
NG_008460.1:g.12782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-30C>G MANE Select	ENSP00000368024.5:n.953-30C>G
ENST00000241041.7:c.953-165C>G	ENSP00000241041.3:n.953-165C>G
ENST00000378750.9:c.953-30C>G	ENSP00000368024.5:n.953-30C>G
ENST00000523721.2:n.183-30C>G
ENST00000532681.5:c.668-30C>G	ENSP00000434654.1:n.668-30C>G
NM_004813.2:c.953-30C>G	NP_004804.1:n.953-30C>G
NM_057174.2:c.953-165C>G	NP_476515.1:n.953-165C>G
XM_011520474.1:c.830-30C>G	XP_011518776.1:n.830-30C>G
NM_004813.3:c.953-30C>G	NP_004804.1:n.953-30C>G
NM_004813.4:c.953-30C>G MANE Select	NP_004804.2:n.953-30C>G
NM_057174.3:c.953-165C>G	NP_476515.2:n.953-165C>G