Canonical Allele Identifier: CA399137053

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33902940T>A (hg19) ; chr17:g.35575921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575921T>A , CM000679.2:g.35575921T>A	GRCh38
NC_000017.10:g.33902940T>A , CM000679.1:g.33902940T>A	GRCh37
NC_000017.9:g.30927053T>A	NCBI36
NG_008447.1:g.7717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.941A>T MANE Select	ENSP00000225873.3:p.Asp314Val
ENST00000586663.2:c.941A>T	ENSP00000466894.2:p.Asp314Val
ENST00000225873.8:c.941A>T	ENSP00000225873.3:p.Asp314Val
ENST00000586663.1:c.941A>T	ENSP00000466894.1:p.Asp314Val
ENST00000613219.4:c.941A>T	ENSP00000482609.1:p.Asp314Val
NM_000286.2:c.941A>T	NP_000277.1:p.Asp314Val
NM_000286.3:c.941A>T MANE Select	NP_000277.1:p.Asp314Val