Canonical Allele Identifier: CA149043353
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1008610254
gnomAD v3: 6-143485059-T-G
gnomAD v4: 6-143485059-T-G
MyVariant Identifiers: chr6:g.143806196T>G (hg19) chr6:g.143485059T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485059T>G , CM000668.2:g.143485059T>G GRCh38
NC_000006.11:g.143806196T>G , CM000668.1:g.143806196T>G GRCh37
NC_000006.10:g.143847889T>G NCBI36
NG_008459.1:g.39279T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-93T>G MANE Select ENSP00000356563.4:n.942-93T>G
ENST00000367591.4:c.942-93T>G ENSP00000356563.4:n.942-93T>G
NM_003630.2:c.942-93T>G NP_003621.1:n.942-93T>G
NM_003630.3:c.942-93T>G MANE Select NP_003621.1:n.942-93T>G
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