Canonical Allele Identifier: CA4029590
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291279
ClinVar RCV Id: RCV000274339 RCV000317753
dbSNP Id: rs199781957
ExAC: 6:143792536 C / G
gnomAD v2: 6-143792536-C-G
gnomAD v3: 6-143471399-C-G
gnomAD v4: 6-143471399-C-G
MyVariant Identifiers: chr6:g.143792536C>G (hg19) chr6:g.143471399C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143471399C>G , CM000668.2:g.143471399C>G GRCh38
NC_000006.11:g.143792536C>G , CM000668.1:g.143792536C>G GRCh37
NC_000006.10:g.143834229C>G NCBI36
NG_008459.1:g.25619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.473C>G MANE Select ENSP00000356563.4:p.Pro158Arg
ENST00000367591.4:c.473C>G ENSP00000356563.4:p.Pro158Arg
ENST00000367592.5:c.341C>G ENSP00000356564.1:p.Pro114Arg
NM_003630.2:c.473C>G NP_003621.1:p.Pro158Arg
NM_003630.3:c.473C>G MANE Select NP_003621.1:p.Pro158Arg
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