Canonical Allele Identifier: CA2809305416
Gene: PEX12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575731G>C , CM000679.2:g.35575731G>C GRCh38
NC_000017.10:g.33902750G>C , CM000679.1:g.33902750G>C GRCh37
NC_000017.9:g.30926863G>C NCBI36
NG_008447.1:g.7907C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*51C>G MANE Select ENSP00000225873.3:n.*51C>G
ENST00000225873.8:c.*51C>G ENSP00000225873.3:n.*51C>G
ENST00000613219.4:c.*51C>G ENSP00000482609.1:n.*51C>G
NM_000286.2:c.*51C>G NP_000277.1:n.*51C>G
NM_000286.3:c.*51C>G MANE Select NP_000277.1:n.*51C>G
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