Canonical Allele Identifier: CA499903500
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109299
ClinVar RCV Id: RCV003019981
MyVariant Identifiers: chr17:g.33902960A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575941A>G , CM000679.2:g.35575941A>G GRCh38
NC_000017.10:g.33902960A>G , CM000679.1:g.33902960A>G GRCh37
NC_000017.9:g.30927073A>G NCBI36
NG_008447.1:g.7697T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.921T>C MANE Select ENSP00000225873.3:p.Cys307=
ENST00000586663.2:c.921T>C ENSP00000466894.2:p.Cys307=
ENST00000225873.8:c.921T>C ENSP00000225873.3:p.Cys307=
ENST00000586663.1:c.921T>C ENSP00000466894.1:p.Cys307=
ENST00000613219.4:c.921T>C ENSP00000482609.1:p.Cys307=
NM_000286.2:c.921T>C NP_000277.1:p.Cys307=
NM_000286.3:c.921T>C MANE Select NP_000277.1:p.Cys307=
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