Canonical Allele Identifier: CA145996

Gene: PEX12

Linked Data

• ClinVar Variation Id: 92774
• ClinVar RCV Id: RCV000078561 ; RCV000970690 ; RCV001729380 ; RCV004549499 ; RCV002515755
• dbSNP Id: rs138731505
• ExAC: 17:33904286 G / A
• gnomAD v2: 17-33904286-G-A
• gnomAD v3: 17-35577267-G-A
• gnomAD v4: 17-35577267-G-A
• MyVariant Identifiers: chr17:g.33904286G>A (hg19) ; chr17:g.35577267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577267G>A , CM000679.2:g.35577267G>A	GRCh38
NC_000017.10:g.33904286G>A , CM000679.1:g.33904286G>A	GRCh37
NC_000017.9:g.30928399G>A	NCBI36
NG_008447.1:g.6371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.451C>T MANE Select	ENSP00000225873.3:p.Arg151Cys
ENST00000586663.2:c.451C>T	ENSP00000466894.2:p.Arg151Cys
ENST00000225873.8:c.451C>T	ENSP00000225873.3:p.Arg151Cys
ENST00000585380.1:c.451C>T	ENSP00000466280.1:p.Arg151Cys
ENST00000586663.1:c.451C>T	ENSP00000466894.1:p.Arg151Cys
ENST00000613219.4:c.451C>T	ENSP00000482609.1:p.Arg151Cys
NM_000286.2:c.451C>T	NP_000277.1:p.Arg151Cys
NM_000286.3:c.451C>T MANE Select	NP_000277.1:p.Arg151Cys