Canonical Allele Identifier: CA399137482
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040972
ClinVar RCV Id: RCV002890879
dbSNP Id: rs1204653593
gnomAD v2: 17-33903141-A-G
gnomAD v4: 17-35576122-A-G
MyVariant Identifiers: chr17:g.33903141A>G (hg19) chr17:g.35576122A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576122A>G , CM000679.2:g.35576122A>G GRCh38
NC_000017.10:g.33903141A>G , CM000679.1:g.33903141A>G GRCh37
NC_000017.9:g.30927254A>G NCBI36
NG_008447.1:g.7516T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.740T>C MANE Select ENSP00000225873.3:p.Leu247Pro
ENST00000586663.2:c.740T>C ENSP00000466894.2:p.Leu247Pro
ENST00000225873.8:c.740T>C ENSP00000225873.3:p.Leu247Pro
ENST00000586663.1:c.740T>C ENSP00000466894.1:p.Leu247Pro
ENST00000613219.4:c.740T>C ENSP00000482609.1:p.Leu247Pro
NM_000286.2:c.740T>C NP_000277.1:p.Leu247Pro
NM_000286.3:c.740T>C MANE Select NP_000277.1:p.Leu247Pro
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