Canonical Allele Identifier: CA290068575

Gene: PEX12

Linked Data

• dbSNP Id: rs1048955680
• gnomAD v3: 17-35576276-T-A
• gnomAD v4: 17-35576276-T-A
• MyVariant Identifiers: chr17:g.33903295T>A (hg19) ; chr17:g.35576276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576276T>A , CM000679.2:g.35576276T>A	GRCh38
NC_000017.10:g.33903295T>A , CM000679.1:g.33903295T>A	GRCh37
NC_000017.9:g.30927408T>A	NCBI36
NG_008447.1:g.7362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.681-95A>T MANE Select	ENSP00000225873.3:n.681-95A>T
ENST00000586663.2:c.681-95A>T	ENSP00000466894.2:n.681-95A>T
ENST00000225873.8:c.681-95A>T	ENSP00000225873.3:n.681-95A>T
ENST00000586663.1:c.681-95A>T	ENSP00000466894.1:n.681-95A>T
ENST00000613219.4:c.681-95A>T	ENSP00000482609.1:n.681-95A>T
NM_000286.2:c.681-95A>T	NP_000277.1:n.681-95A>T
NM_000286.3:c.681-95A>T MANE Select	NP_000277.1:n.681-95A>T