Canonical Allele Identifier: CA1968698177
Gene: PEX16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910149T= , CM000673.2:g.45910149T= GRCh38
NC_000011.9:g.45931700T= , CM000673.1:g.45931700T= GRCh37
NC_000011.8:g.45888276T= NCBI36
NG_008460.1:g.12975A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*105A= MANE Select ENSP00000368024.5:n.*105A=
ENST00000241041.7:c.981A= ENSP00000241041.3:p.Leu327=
NM_004813.2:c.*105A= NP_004804.1:n.*105A=
NM_057174.2:c.981A= NP_476515.1:p.Leu327=
NM_004813.3:c.*105A= NP_004804.1:n.*105A=
NM_004813.4:c.*105A= MANE Select NP_004804.2:n.*105A=
NM_057174.3:c.981A= NP_476515.2:p.Leu327=