Canonical Allele Identifier: CA365887342
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1296466779
gnomAD v3: 6-143485178-C-G
gnomAD v4: 6-143485178-C-G
MyVariant Identifiers: chr6:g.143806315C>G (hg19) chr6:g.143485178C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485178C>G , CM000668.2:g.143485178C>G GRCh38
NC_000006.11:g.143806315C>G , CM000668.1:g.143806315C>G GRCh37
NC_000006.10:g.143848008C>G NCBI36
NG_008459.1:g.39398C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.968C>G MANE Select ENSP00000356563.4:p.Ala323Gly
ENST00000367591.4:c.968C>G ENSP00000356563.4:p.Ala323Gly
ENST00000585848.1:n.107C>G
NM_003630.2:c.968C>G NP_003621.1:p.Ala323Gly
NM_003630.3:c.968C>G MANE Select NP_003621.1:p.Ala323Gly
Search 100 bp 5'
Search 100 bp 3'