Canonical Allele Identifier: CA1139532546

Gene: PEX16

Linked Data

• dbSNP Id: rs1590792923
• gnomAD v4: 11-45910221-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910221A>C , CM000673.2:g.45910221A>C	GRCh38
NC_000011.9:g.45931772A>C , CM000673.1:g.45931772A>C	GRCh37
NC_000011.8:g.45888348A>C	NCBI36
NG_008460.1:g.12903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*33T>G MANE Select	ENSP00000368024.5:n.*33T>G
ENST00000241041.7:c.953-44T>G	ENSP00000241041.3:n.953-44T>G
ENST00000378750.9:c.*33T>G	ENSP00000368024.5:n.*33T>G
ENST00000523721.2:n.274T>G
ENST00000532681.5:c.*33T>G	ENSP00000434654.1:n.*33T>G
NM_004813.2:c.*33T>G	NP_004804.1:n.*33T>G
NM_057174.2:c.953-44T>G	NP_476515.1:n.953-44T>G
XM_011520474.1:c.*33T>G	XP_011518776.1:n.*33T>G
NM_004813.3:c.*33T>G	NP_004804.1:n.*33T>G
NM_004813.4:c.*33T>G MANE Select	NP_004804.2:n.*33T>G
NM_057174.3:c.953-44T>G	NP_476515.2:n.953-44T>G