Canonical Allele Identifier: CA399137113
Gene: PEX12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.33902969G>T (hg19) chr17:g.35575950G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575950G>T , CM000679.2:g.35575950G>T GRCh38
NC_000017.10:g.33902969G>T , CM000679.1:g.33902969G>T GRCh37
NC_000017.9:g.30927082G>T NCBI36
NG_008447.1:g.7688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.912C>A MANE Select ENSP00000225873.3:p.Cys304Ter
ENST00000586663.2:c.912C>A ENSP00000466894.2:p.Cys304Ter
ENST00000225873.8:c.912C>A ENSP00000225873.3:p.Cys304Ter
ENST00000586663.1:c.912C>A ENSP00000466894.1:p.Cys304Ter
ENST00000613219.4:c.912C>A ENSP00000482609.1:p.Cys304Ter
NM_000286.2:c.912C>A NP_000277.1:p.Cys304Ter
NM_000286.3:c.912C>A MANE Select NP_000277.1:p.Cys304Ter
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