Canonical Allele Identifier: CA8504906

Gene: PEX12

Linked Data

• ClinVar Variation Id: 285542
• ClinVar RCV Id: RCV000275125 ; RCV001080036 ; RCV002521937 ; RCV004547702
• dbSNP Id: rs150186509
• ExAC: 17:33904285 C / T
• gnomAD v2: 17-33904285-C-T
• gnomAD v3: 17-35577266-C-T
• gnomAD v4: 17-35577266-C-T
• MyVariant Identifiers: chr17:g.33904285C>T (hg19) ; chr17:g.35577266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577266C>T , CM000679.2:g.35577266C>T	GRCh38
NC_000017.10:g.33904285C>T , CM000679.1:g.33904285C>T	GRCh37
NC_000017.9:g.30928398C>T	NCBI36
NG_008447.1:g.6372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.452G>A MANE Select	ENSP00000225873.3:p.Arg151His
ENST00000586663.2:c.452G>A	ENSP00000466894.2:p.Arg151His
ENST00000225873.8:c.452G>A	ENSP00000225873.3:p.Arg151His
ENST00000585380.1:c.452G>A	ENSP00000466280.1:p.Arg151His
ENST00000586663.1:c.452G>A	ENSP00000466894.1:p.Arg151His
ENST00000613219.4:c.452G>A	ENSP00000482609.1:p.Arg151His
NM_000286.2:c.452G>A	NP_000277.1:p.Arg151His
NM_000286.3:c.452G>A MANE Select	NP_000277.1:p.Arg151His