Canonical Allele Identifier: CA221592762

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45917794G>C , CM000673.2:g.45917794G>C	GRCh38
NC_000011.9:g.45939345G>C , CM000673.1:g.45939345G>C	GRCh37
NC_000011.8:g.45895921G>C	NCBI36
NG_008460.1:g.5330C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.18C>G MANE Select	NP_004804.2:p.Leu6=
ENST00000378750.10:c.18C>G MANE Select	ENSP00000368024.5:p.Leu6=
NM_004813.2:c.18C>G	NP_004804.1:p.Leu6=
NM_004813.3:c.18C>G	NP_004804.1:p.Leu6=
NM_057174.2:c.18C>G	NP_476515.1:p.Leu6=
NM_057174.3:c.18C>G	NP_476515.2:p.Leu6=
ENST00000241041.7:c.18C>G	ENSP00000241041.3:p.Leu6=
ENST00000378750.9:c.18C>G	ENSP00000368024.5:p.Leu6=
ENST00000525192.5:c.-194C>G	ENSP00000431309.1:n.-194C>G
ENST00000525229.5:c.18C>G	ENSP00000431132.1:p.Leu6=
ENST00000528674.5:c.18C>G	ENSP00000434060.1:p.Leu6=
ENST00000529030.1:c.18C>G	ENSP00000432486.1:p.Leu6=
ENST00000532554.5:n.74C>G
ENST00000532681.5:c.-173-301C>G	ENSP00000434654.1:n.-173-301C>G
ENST00000533151.5:c.18C>G	ENSP00000433045.1:p.Leu6=