Canonical Allele Identifier: CA399138519

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33904478A>T (hg19) ; chr17:g.35577459A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577459A>T , CM000679.2:g.35577459A>T	GRCh38
NC_000017.10:g.33904478A>T , CM000679.1:g.33904478A>T	GRCh37
NC_000017.9:g.30928591A>T	NCBI36
NG_008447.1:g.6179T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.259T>A MANE Select	ENSP00000225873.3:p.Tyr87Asn
ENST00000586663.2:c.259T>A	ENSP00000466894.2:p.Tyr87Asn
ENST00000225873.8:c.259T>A	ENSP00000225873.3:p.Tyr87Asn
ENST00000585380.1:c.259T>A	ENSP00000466280.1:p.Tyr87Asn
ENST00000586663.1:c.259T>A	ENSP00000466894.1:p.Tyr87Asn
ENST00000613219.4:c.259T>A	ENSP00000482609.1:p.Tyr87Asn
NM_000286.2:c.259T>A	NP_000277.1:p.Tyr87Asn
NM_000286.3:c.259T>A MANE Select	NP_000277.1:p.Tyr87Asn