Canonical Allele Identifier: CA2257588004
Gene: PEX12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35577350A= , CM000679.2:g.35577350A= GRCh38
NC_000017.10:g.33904369A= , CM000679.1:g.33904369A= GRCh37
NC_000017.9:g.30928482A= NCBI36
NG_008447.1:g.6288T=

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.368T= MANE Select ENSP00000225873.3:p.Leu123=
ENST00000586663.2:c.368T= ENSP00000466894.2:p.Leu123=
ENST00000225873.8:c.368T= ENSP00000225873.3:p.Leu123=
ENST00000585380.1:c.368T= ENSP00000466280.1:p.Leu123=
ENST00000586663.1:c.368T= ENSP00000466894.1:p.Leu123=
ENST00000613219.4:c.368T= ENSP00000482609.1:p.Leu123=
NM_000286.2:c.368T= NP_000277.1:p.Leu123=
NM_000286.3:c.368T= MANE Select NP_000277.1:p.Leu123=