Canonical Allele Identifier: CA290068358
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs573624630
gnomAD v3: 17-35576106-A-G
gnomAD v4: 17-35576106-A-G
MyVariant Identifiers: chr17:g.33903125A>G (hg19) chr17:g.35576106A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576106A>G , CM000679.2:g.35576106A>G GRCh38
NC_000017.10:g.33903125A>G , CM000679.1:g.33903125A>G GRCh37
NC_000017.9:g.30927238A>G NCBI36
NG_008447.1:g.7532T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.756T>C MANE Select ENSP00000225873.3:p.Ser252=
ENST00000586663.2:c.756T>C ENSP00000466894.2:p.Ser252=
ENST00000225873.8:c.756T>C ENSP00000225873.3:p.Ser252=
ENST00000586663.1:c.756T>C ENSP00000466894.1:p.Ser252=
ENST00000613219.4:c.756T>C ENSP00000482609.1:p.Ser252=
NM_000286.2:c.756T>C NP_000277.1:p.Ser252=
NM_000286.3:c.756T>C MANE Select NP_000277.1:p.Ser252=
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