Canonical Allele Identifier: CA452462437
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1344866356
gnomAD v3: 6-143485107-G-C
gnomAD v4: 6-143485107-G-C
MyVariant Identifiers: chr6:g.143806244G>C (hg19) chr6:g.143485107G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485107G>C , CM000668.2:g.143485107G>C GRCh38
NC_000006.11:g.143806244G>C , CM000668.1:g.143806244G>C GRCh37
NC_000006.10:g.143847937G>C NCBI36
NG_008459.1:g.39327G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.942-45G>C MANE Select ENSP00000356563.4:n.942-45G>C
ENST00000367591.4:c.942-45G>C ENSP00000356563.4:n.942-45G>C
ENST00000585848.1:n.36G>C
NM_003630.2:c.942-45G>C NP_003621.1:n.942-45G>C
NM_003630.3:c.942-45G>C MANE Select NP_003621.1:n.942-45G>C
Search 100 bp 5'
Search 100 bp 3'