Canonical Allele Identifier: CA149043643
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs556063373
gnomAD v3: 6-143485456-T-C
gnomAD v4: 6-143485456-T-C
MyVariant Identifiers: chr6:g.143806593T>C (hg19) chr6:g.143485456T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485456T>C , CM000668.2:g.143485456T>C GRCh38
NC_000006.11:g.143806593T>C , CM000668.1:g.143806593T>C GRCh37
NC_000006.10:g.143848286T>C NCBI36
NG_008459.1:g.39676T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+208T>C MANE Select ENSP00000356563.4:n.1038+208T>C
ENST00000367591.4:c.1038+208T>C ENSP00000356563.4:n.1038+208T>C
ENST00000585848.1:n.177+208T>C
NM_003630.2:c.1038+208T>C NP_003621.1:n.1038+208T>C
NM_003630.3:c.1038+208T>C MANE Select NP_003621.1:n.1038+208T>C
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