Canonical Allele Identifier: CA365887516
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1997008
ClinVar RCV Id: RCV002823881
MyVariant Identifiers: chr6:g.143806348A>T (hg19) chr6:g.143485211A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485211A>T , CM000668.2:g.143485211A>T GRCh38
NC_000006.11:g.143806348A>T , CM000668.1:g.143806348A>T GRCh37
NC_000006.10:g.143848041A>T NCBI36
NG_008459.1:g.39431A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.1001A>T MANE Select ENSP00000356563.4:p.His334Leu
ENST00000367591.4:c.1001A>T ENSP00000356563.4:p.His334Leu
ENST00000585848.1:n.140A>T
NM_003630.2:c.1001A>T NP_003621.1:p.His334Leu
NM_003630.3:c.1001A>T MANE Select NP_003621.1:p.His334Leu
Search 100 bp 5'
Search 100 bp 3'