Canonical Allele Identifier: CA221592724

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45917785G>A , CM000673.2:g.45917785G>A	GRCh38
NC_000011.9:g.45939336G>A , CM000673.1:g.45939336G>A	GRCh37
NC_000011.8:g.45895912G>A	NCBI36
NG_008460.1:g.5339C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.27C>T MANE Select	NP_004804.2:p.Leu9=
ENST00000378750.10:c.27C>T MANE Select	ENSP00000368024.5:p.Leu9=
NM_004813.2:c.27C>T	NP_004804.1:p.Leu9=
NM_004813.3:c.27C>T	NP_004804.1:p.Leu9=
NM_057174.2:c.27C>T	NP_476515.1:p.Leu9=
NM_057174.3:c.27C>T	NP_476515.2:p.Leu9=
ENST00000241041.7:c.27C>T	ENSP00000241041.3:p.Leu9=
ENST00000378750.9:c.27C>T	ENSP00000368024.5:p.Leu9=
ENST00000525192.5:c.-185C>T	ENSP00000431309.1:n.-185C>T
ENST00000525229.5:c.27C>T	ENSP00000431132.1:p.Leu9=
ENST00000528674.5:c.27C>T	ENSP00000434060.1:p.Leu9=
ENST00000529030.1:c.27C>T	ENSP00000432486.1:p.Leu9=
ENST00000532554.5:n.83C>T
ENST00000532681.5:c.-173-292C>T	ENSP00000434654.1:n.-173-292C>T
ENST00000533151.5:c.27C>T	ENSP00000433045.1:p.Leu9=