Canonical Allele Identifier: CA290067976
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs966726269
gnomAD v3: 17-35575726-G-A
gnomAD v4: 17-35575726-G-A
MyVariant Identifiers: chr17:g.33902745G>A (hg19) chr17:g.35575726G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575726G>A , CM000679.2:g.35575726G>A GRCh38
NC_000017.10:g.33902745G>A , CM000679.1:g.33902745G>A GRCh37
NC_000017.9:g.30926858G>A NCBI36
NG_008447.1:g.7912C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.*56C>T MANE Select ENSP00000225873.3:n.*56C>T
ENST00000225873.8:c.*56C>T ENSP00000225873.3:n.*56C>T
ENST00000613219.4:c.*56C>T ENSP00000482609.1:n.*56C>T
NM_000286.2:c.*56C>T NP_000277.1:n.*56C>T
NM_000286.3:c.*56C>T MANE Select NP_000277.1:n.*56C>T
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