Canonical Allele Identifier: CA399137506

Gene: PEX12

Linked Data

• ClinVar Variation Id: 2080736
• ClinVar RCV Id: RCV003002154
• MyVariant Identifiers: chr17:g.33903154C>T (hg19) ; chr17:g.35576135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576135C>T , CM000679.2:g.35576135C>T	GRCh38
NC_000017.10:g.33903154C>T , CM000679.1:g.33903154C>T	GRCh37
NC_000017.9:g.30927267C>T	NCBI36
NG_008447.1:g.7503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.727G>A MANE Select	ENSP00000225873.3:p.Val243Ile
ENST00000586663.2:c.727G>A	ENSP00000466894.2:p.Val243Ile
ENST00000225873.8:c.727G>A	ENSP00000225873.3:p.Val243Ile
ENST00000586663.1:c.727G>A	ENSP00000466894.1:p.Val243Ile
ENST00000613219.4:c.727G>A	ENSP00000482609.1:p.Val243Ile
NM_000286.2:c.727G>A	NP_000277.1:p.Val243Ile
NM_000286.3:c.727G>A MANE Select	NP_000277.1:p.Val243Ile