Canonical Allele Identifier: CA399137519
Gene: PEX12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576144C>G , CM000679.2:g.35576144C>G GRCh38
NC_000017.10:g.33903163C>G , CM000679.1:g.33903163C>G GRCh37
NC_000017.9:g.30927276C>G NCBI36
NG_008447.1:g.7494G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.718G>C MANE Select ENSP00000225873.3:p.Val240Leu
ENST00000586663.2:c.718G>C ENSP00000466894.2:p.Val240Leu
ENST00000225873.8:c.718G>C ENSP00000225873.3:p.Val240Leu
ENST00000586663.1:c.718G>C ENSP00000466894.1:p.Val240Leu
ENST00000613219.4:c.718G>C ENSP00000482609.1:p.Val240Leu
NM_000286.2:c.718G>C NP_000277.1:p.Val240Leu
NM_000286.3:c.718G>C MANE Select NP_000277.1:p.Val240Leu