Canonical Allele Identifier: CA399137496
Gene: PEX12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.33903150G>T (hg19) chr17:g.35576131G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576131G>T , CM000679.2:g.35576131G>T GRCh38
NC_000017.10:g.33903150G>T , CM000679.1:g.33903150G>T GRCh37
NC_000017.9:g.30927263G>T NCBI36
NG_008447.1:g.7507C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.731C>A MANE Select ENSP00000225873.3:p.Ala244Asp
ENST00000586663.2:c.731C>A ENSP00000466894.2:p.Ala244Asp
ENST00000225873.8:c.731C>A ENSP00000225873.3:p.Ala244Asp
ENST00000586663.1:c.731C>A ENSP00000466894.1:p.Ala244Asp
ENST00000613219.4:c.731C>A ENSP00000482609.1:p.Ala244Asp
NM_000286.2:c.731C>A NP_000277.1:p.Ala244Asp
NM_000286.3:c.731C>A MANE Select NP_000277.1:p.Ala244Asp
Search 100 bp 5'
Search 100 bp 3'