Canonical Allele Identifier: CA380223167
Gene: PEX16 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910265T>G , CM000673.2:g.45910265T>G GRCh38
NC_000011.9:g.45931816T>G , CM000673.1:g.45931816T>G GRCh37
NC_000011.8:g.45888392T>G NCBI36
NG_008460.1:g.12859A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.1000A>C MANE Select ENSP00000368024.5:p.Ser334Arg
ENST00000241041.7:c.953-88A>C ENSP00000241041.3:n.953-88A>C
ENST00000378750.9:c.1000A>C ENSP00000368024.5:p.Ser334Arg
ENST00000523721.2:n.230A>C
ENST00000532681.5:c.715A>C ENSP00000434654.1:p.Ser239Arg
NM_004813.2:c.1000A>C NP_004804.1:p.Ser334Arg
NM_057174.2:c.953-88A>C NP_476515.1:n.953-88A>C
XM_011520474.1:c.877A>C XP_011518776.1:p.Ser293Arg
NM_004813.3:c.1000A>C NP_004804.1:p.Ser334Arg
NM_004813.4:c.1000A>C MANE Select NP_004804.2:p.Ser334Arg
NM_057174.3:c.953-88A>C NP_476515.2:n.953-88A>C