Canonical Allele Identifier: CA499903821
Gene: PEX12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1649172
ClinVar RCV Id: RCV002146253
dbSNP Id: rs1404693909
gnomAD v2: 17-33903173-C-T
gnomAD v3: 17-35576154-C-T
gnomAD v4: 17-35576154-C-T
MyVariant Identifiers: chr17:g.33903173C>T (hg19) chr17:g.35576154C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576154C>T , CM000679.2:g.35576154C>T GRCh38
NC_000017.10:g.33903173C>T , CM000679.1:g.33903173C>T GRCh37
NC_000017.9:g.30927286C>T NCBI36
NG_008447.1:g.7484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.708G>A MANE Select ENSP00000225873.3:p.Leu236=
ENST00000586663.2:c.708G>A ENSP00000466894.2:p.Leu236=
ENST00000225873.8:c.708G>A ENSP00000225873.3:p.Leu236=
ENST00000586663.1:c.708G>A ENSP00000466894.1:p.Leu236=
ENST00000613219.4:c.708G>A ENSP00000482609.1:p.Leu236=
NM_000286.2:c.708G>A NP_000277.1:p.Leu236=
NM_000286.3:c.708G>A MANE Select NP_000277.1:p.Leu236=
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Search 100 bp 3'