Canonical Allele Identifier: CA499903742

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33903125A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35576106A>C , CM000679.2:g.35576106A>C	GRCh38
NC_000017.10:g.33903125A>C , CM000679.1:g.33903125A>C	GRCh37
NC_000017.9:g.30927238A>C	NCBI36
NG_008447.1:g.7532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.756T>G MANE Select	ENSP00000225873.3:p.Ser252=
ENST00000586663.2:c.756T>G	ENSP00000466894.2:p.Ser252=
ENST00000225873.8:c.756T>G	ENSP00000225873.3:p.Ser252=
ENST00000586663.1:c.756T>G	ENSP00000466894.1:p.Ser252=
ENST00000613219.4:c.756T>G	ENSP00000482609.1:p.Ser252=
NM_000286.2:c.756T>G	NP_000277.1:p.Ser252=
NM_000286.3:c.756T>G MANE Select	NP_000277.1:p.Ser252=