Canonical Allele Identifier: CA499903750

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33903131G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576112G>A , CM000679.2:g.35576112G>A	GRCh38
NC_000017.10:g.33903131G>A , CM000679.1:g.33903131G>A	GRCh37
NC_000017.9:g.30927244G>A	NCBI36
NG_008447.1:g.7526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.750C>T MANE Select	ENSP00000225873.3:p.Gly250=
ENST00000586663.2:c.750C>T	ENSP00000466894.2:p.Gly250=
ENST00000225873.8:c.750C>T	ENSP00000225873.3:p.Gly250=
ENST00000586663.1:c.750C>T	ENSP00000466894.1:p.Gly250=
ENST00000613219.4:c.750C>T	ENSP00000482609.1:p.Gly250=
NM_000286.2:c.750C>T	NP_000277.1:p.Gly250=
NM_000286.3:c.750C>T MANE Select	NP_000277.1:p.Gly250=