Canonical Allele Identifier: CA499903466

Gene: PEX12

Linked Data

• dbSNP Id: rs1244761443
• gnomAD v2: 17-33902939-A-G
• MyVariant Identifiers: chr17:g.33902939A>G (hg19) ; chr17:g.35575920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35575920A>G , CM000679.2:g.35575920A>G	GRCh38
NC_000017.10:g.33902939A>G , CM000679.1:g.33902939A>G	GRCh37
NC_000017.9:g.30927052A>G	NCBI36
NG_008447.1:g.7718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.942T>C MANE Select	ENSP00000225873.3:p.Asp314=
ENST00000586663.2:c.942T>C	ENSP00000466894.2:p.Asp314=
ENST00000225873.8:c.942T>C	ENSP00000225873.3:p.Asp314=
ENST00000586663.1:c.942T>C	ENSP00000466894.1:p.Asp314=
ENST00000613219.4:c.942T>C	ENSP00000482609.1:p.Asp314=
NM_000286.2:c.942T>C	NP_000277.1:p.Asp314=
NM_000286.3:c.942T>C MANE Select	NP_000277.1:p.Asp314=