Canonical Allele Identifier: CA399137101
Gene: PEX12 HGNC NCBI

Linked Data

gnomAD v4: 17-35575945-A-C
MyVariant Identifiers: chr17:g.33902964A>C (hg19) chr17:g.35575945A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575945A>C , CM000679.2:g.35575945A>C GRCh38
NC_000017.10:g.33902964A>C , CM000679.1:g.33902964A>C GRCh37
NC_000017.9:g.30927077A>C NCBI36
NG_008447.1:g.7693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.917T>G MANE Select ENSP00000225873.3:p.Leu306Arg
ENST00000586663.2:c.917T>G ENSP00000466894.2:p.Leu306Arg
ENST00000225873.8:c.917T>G ENSP00000225873.3:p.Leu306Arg
ENST00000586663.1:c.917T>G ENSP00000466894.1:p.Leu306Arg
ENST00000613219.4:c.917T>G ENSP00000482609.1:p.Leu306Arg
NM_000286.2:c.917T>G NP_000277.1:p.Leu306Arg
NM_000286.3:c.917T>G MANE Select NP_000277.1:p.Leu306Arg
Search 100 bp 5'
Search 100 bp 3'