Canonical Allele Identifier: CA8504906
Community Standard Title: NM_000286.3(PEX12):c.452G>A (p.Arg151His)
Gene: PEX12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35577266C>T , CM000679.2:g.35577266C>T GRCh38
NC_000017.10:g.33904285C>T , CM000679.1:g.33904285C>T GRCh37
NC_000017.9:g.30928398C>T NCBI36
NG_008447.1:g.6372G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000286.3:c.452G>A MANE Select NP_000277.1:p.Arg151His
ENST00000225873.9:c.452G>A MANE Select ENSP00000225873.3:p.Arg151His
NM_000286.2:c.452G>A NP_000277.1:p.Arg151His
ENST00000225873.8:c.452G>A ENSP00000225873.3:p.Arg151His
ENST00000585380.1:c.452G>A ENSP00000466280.1:p.Arg151His
ENST00000586663.1:c.452G>A ENSP00000466894.1:p.Arg151His
ENST00000586663.2:c.452G>A ENSP00000466894.2:p.Arg151His
ENST00000613219.4:c.452G>A ENSP00000482609.1:p.Arg151His
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