Canonical Allele Identifier: CA365887751
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485246-C-A
MyVariant Identifiers: chr6:g.143806383C>A (hg19) chr6:g.143485246C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485246C>A , CM000668.2:g.143485246C>A GRCh38
NC_000006.11:g.143806383C>A , CM000668.1:g.143806383C>A GRCh37
NC_000006.10:g.143848076C>A NCBI36
NG_008459.1:g.39466C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1036C>A MANE Select ENSP00000356563.4:p.Gln346Lys
ENST00000367591.4:c.1036C>A ENSP00000356563.4:p.Gln346Lys
ENST00000585848.1:n.175C>A
NM_003630.2:c.1036C>A NP_003621.1:p.Gln346Lys
NM_003630.3:c.1036C>A MANE Select NP_003621.1:p.Gln346Lys
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