Canonical Allele Identifier: CA499903634

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33903065G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576046G>T , CM000679.2:g.35576046G>T	GRCh38
NC_000017.10:g.33903065G>T , CM000679.1:g.33903065G>T	GRCh37
NC_000017.9:g.30927178G>T	NCBI36
NG_008447.1:g.7592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.816C>A MANE Select	ENSP00000225873.3:p.Thr272=
ENST00000586663.2:c.816C>A	ENSP00000466894.2:p.Thr272=
ENST00000225873.8:c.816C>A	ENSP00000225873.3:p.Thr272=
ENST00000586663.1:c.816C>A	ENSP00000466894.1:p.Thr272=
ENST00000613219.4:c.816C>A	ENSP00000482609.1:p.Thr272=
NM_000286.2:c.816C>A	NP_000277.1:p.Thr272=
NM_000286.3:c.816C>A MANE Select	NP_000277.1:p.Thr272=