Canonical Allele Identifier: CA399137055
Gene: PEX12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.33902940T>G (hg19) chr17:g.35575921T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575921T>G , CM000679.2:g.35575921T>G GRCh38
NC_000017.10:g.33902940T>G , CM000679.1:g.33902940T>G GRCh37
NC_000017.9:g.30927053T>G NCBI36
NG_008447.1:g.7717A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.941A>C MANE Select ENSP00000225873.3:p.Asp314Ala
ENST00000586663.2:c.941A>C ENSP00000466894.2:p.Asp314Ala
ENST00000225873.8:c.941A>C ENSP00000225873.3:p.Asp314Ala
ENST00000586663.1:c.941A>C ENSP00000466894.1:p.Asp314Ala
ENST00000613219.4:c.941A>C ENSP00000482609.1:p.Asp314Ala
NM_000286.2:c.941A>C NP_000277.1:p.Asp314Ala
NM_000286.3:c.941A>C MANE Select NP_000277.1:p.Asp314Ala
Search 100 bp 5'
Search 100 bp 3'