Canonical Allele Identifier: CA8504998

Gene: PEX12

Linked Data

• ClinVar Variation Id: 322655
• ClinVar RCV Id: RCV000920088 ; RCV004021697
• dbSNP Id: rs193253559
• ExAC: 17:33905000 G / T
• gnomAD v2: 17-33905000-G-T
• gnomAD v3: 17-35577981-G-T
• gnomAD v4: 17-35577981-G-T
• MyVariant Identifiers: chr17:g.33905000G>T (hg19) ; chr17:g.35577981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577981G>T , CM000679.2:g.35577981G>T	GRCh38
NC_000017.10:g.33905000G>T , CM000679.1:g.33905000G>T	GRCh37
NC_000017.9:g.30929113G>T	NCBI36
NG_008447.1:g.5657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.41C>A MANE Select	ENSP00000225873.3:p.Ala14Asp
ENST00000586663.2:c.41C>A	ENSP00000466894.2:p.Ala14Asp
ENST00000225873.8:c.41C>A	ENSP00000225873.3:p.Ala14Asp
ENST00000585380.1:c.41C>A	ENSP00000466280.1:p.Ala14Asp
ENST00000586663.1:c.41C>A	ENSP00000466894.1:p.Ala14Asp
ENST00000613219.4:c.41C>A	ENSP00000482609.1:p.Ala14Asp
NM_000286.2:c.41C>A	NP_000277.1:p.Ala14Asp
NM_000286.3:c.41C>A MANE Select	NP_000277.1:p.Ala14Asp