Canonical Allele Identifier: CA2680597050
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485287-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485287A>G , CM000668.2:g.143485287A>G GRCh38
NC_000006.11:g.143806424A>G , CM000668.1:g.143806424A>G GRCh37
NC_000006.10:g.143848117A>G NCBI36
NG_008459.1:g.39507A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+39A>G MANE Select ENSP00000356563.4:n.1038+39A>G
ENST00000367591.4:c.1038+39A>G ENSP00000356563.4:n.1038+39A>G
ENST00000585848.1:n.177+39A>G
NM_003630.2:c.1038+39A>G NP_003621.1:n.1038+39A>G
NM_003630.3:c.1038+39A>G MANE Select NP_003621.1:n.1038+39A>G
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