Canonical Allele Identifier: CA1095334698
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1780361130
gnomAD v3: 6-143489519-A-T
gnomAD v4: 6-143489519-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143489519A>T , CM000668.2:g.143489519A>T GRCh38
NC_000006.11:g.143810656A>T , CM000668.1:g.143810656A>T GRCh37
NC_000006.10:g.143852349A>T NCBI36
NG_008459.1:g.43739A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.*293A>T MANE Select ENSP00000356563.4:n.*293A>T
ENST00000367591.4:c.*293A>T ENSP00000356563.4:n.*293A>T
NM_003630.2:c.*293A>T NP_003621.1:n.*293A>T
NM_003630.3:c.*293A>T MANE Select NP_003621.1:n.*293A>T
Search 100 bp 5'
Search 100 bp 3'