Canonical Allele Identifier: CA399137517
Gene: PEX12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.33903162A>G (hg19) chr17:g.35576143A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576143A>G , CM000679.2:g.35576143A>G GRCh38
NC_000017.10:g.33903162A>G , CM000679.1:g.33903162A>G GRCh37
NC_000017.9:g.30927275A>G NCBI36
NG_008447.1:g.7495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.719T>C MANE Select ENSP00000225873.3:p.Val240Ala
ENST00000586663.2:c.719T>C ENSP00000466894.2:p.Val240Ala
ENST00000225873.8:c.719T>C ENSP00000225873.3:p.Val240Ala
ENST00000586663.1:c.719T>C ENSP00000466894.1:p.Val240Ala
ENST00000613219.4:c.719T>C ENSP00000482609.1:p.Val240Ala
NM_000286.2:c.719T>C NP_000277.1:p.Val240Ala
NM_000286.3:c.719T>C MANE Select NP_000277.1:p.Val240Ala
Search 100 bp 5'
Search 100 bp 3'