Canonical Allele Identifier: CA290068007
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs954551964
MyVariant Identifiers: chr17:g.33902754C>T (hg19) chr17:g.35575735C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575735C>T , CM000679.2:g.35575735C>T GRCh38
NC_000017.10:g.33902754C>T , CM000679.1:g.33902754C>T GRCh37
NC_000017.9:g.30926867C>T NCBI36
NG_008447.1:g.7903G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.*47G>A MANE Select ENSP00000225873.3:n.*47G>A
ENST00000225873.8:c.*47G>A ENSP00000225873.3:n.*47G>A
ENST00000613219.4:c.*47G>A ENSP00000482609.1:n.*47G>A
NM_000286.2:c.*47G>A NP_000277.1:n.*47G>A
NM_000286.3:c.*47G>A MANE Select NP_000277.1:n.*47G>A
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