Canonical Allele Identifier: CA399137110
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417663
ClinVar RCV Id: RCV001938538
dbSNP Id: rs1444133628
gnomAD v2: 17-33902968-G-C
gnomAD v4: 17-35575949-G-C
MyVariant Identifiers: chr17:g.33902968G>C (hg19) chr17:g.35575949G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575949G>C , CM000679.2:g.35575949G>C GRCh38
NC_000017.10:g.33902968G>C , CM000679.1:g.33902968G>C GRCh37
NC_000017.9:g.30927081G>C NCBI36
NG_008447.1:g.7689C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.913C>G MANE Select ENSP00000225873.3:p.Pro305Ala
ENST00000586663.2:c.913C>G ENSP00000466894.2:p.Pro305Ala
ENST00000225873.8:c.913C>G ENSP00000225873.3:p.Pro305Ala
ENST00000586663.1:c.913C>G ENSP00000466894.1:p.Pro305Ala
ENST00000613219.4:c.913C>G ENSP00000482609.1:p.Pro305Ala
NM_000286.2:c.913C>G NP_000277.1:p.Pro305Ala
NM_000286.3:c.913C>G MANE Select NP_000277.1:p.Pro305Ala
Search 100 bp 5'
Search 100 bp 3'