Canonical Allele Identifier: CA399137531

Gene: PEX12

Linked Data

• dbSNP Id: rs2072783989
• MyVariant Identifiers: chr17:g.33903168T>G (hg19) ; chr17:g.35576149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576149T>G , CM000679.2:g.35576149T>G	GRCh38
NC_000017.10:g.33903168T>G , CM000679.1:g.33903168T>G	GRCh37
NC_000017.9:g.30927281T>G	NCBI36
NG_008447.1:g.7489A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.713A>C MANE Select	ENSP00000225873.3:p.Lys238Thr
ENST00000586663.2:c.713A>C	ENSP00000466894.2:p.Lys238Thr
ENST00000225873.8:c.713A>C	ENSP00000225873.3:p.Lys238Thr
ENST00000586663.1:c.713A>C	ENSP00000466894.1:p.Lys238Thr
ENST00000613219.4:c.713A>C	ENSP00000482609.1:p.Lys238Thr
NM_000286.2:c.713A>C	NP_000277.1:p.Lys238Thr
NM_000286.3:c.713A>C MANE Select	NP_000277.1:p.Lys238Thr