Canonical Allele Identifier: CA365887235
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485157-C-A
MyVariant Identifiers: chr6:g.143806294C>A (hg19) chr6:g.143485157C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485157C>A , CM000668.2:g.143485157C>A GRCh38
NC_000006.11:g.143806294C>A , CM000668.1:g.143806294C>A GRCh37
NC_000006.10:g.143847987C>A NCBI36
NG_008459.1:g.39377C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.947C>A MANE Select ENSP00000356563.4:p.Ser316Tyr
ENST00000367591.4:c.947C>A ENSP00000356563.4:p.Ser316Tyr
ENST00000585848.1:n.86C>A
NM_003630.2:c.947C>A NP_003621.1:p.Ser316Tyr
NM_003630.3:c.947C>A MANE Select NP_003621.1:p.Ser316Tyr
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