Canonical Allele Identifier: CA149045911
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs895166088
gnomAD v3: 6-143489848-C-T
gnomAD v4: 6-143489848-C-T
MyVariant Identifiers: chr6:g.143810985C>T (hg19) chr6:g.143489848C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143489848C>T , CM000668.2:g.143489848C>T GRCh38
NC_000006.11:g.143810985C>T , CM000668.1:g.143810985C>T GRCh37
NC_000006.10:g.143852678C>T NCBI36
NG_008459.1:g.44068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.*622C>T MANE Select ENSP00000356563.4:n.*622C>T
ENST00000367591.4:c.*622C>T ENSP00000356563.4:n.*622C>T
NM_003630.2:c.*622C>T NP_003621.1:n.*622C>T
NM_003630.3:c.*622C>T MANE Select NP_003621.1:n.*622C>T
Search 100 bp 5'
Search 100 bp 3'