Canonical Allele Identifier: CA2257586867
Gene: PEX12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576151C= , CM000679.2:g.35576151C= GRCh38
NC_000017.10:g.33903170C= , CM000679.1:g.33903170C= GRCh37
NC_000017.9:g.30927283C= NCBI36
NG_008447.1:g.7487G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.711G= MANE Select ENSP00000225873.3:p.Lys237=
ENST00000586663.2:c.711G= ENSP00000466894.2:p.Lys237=
ENST00000225873.8:c.711G= ENSP00000225873.3:p.Lys237=
ENST00000586663.1:c.711G= ENSP00000466894.1:p.Lys237=
ENST00000613219.4:c.711G= ENSP00000482609.1:p.Lys237=
NM_000286.2:c.711G= NP_000277.1:p.Lys237=
NM_000286.3:c.711G= MANE Select NP_000277.1:p.Lys237=
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