Canonical Allele Identifier: CA149043415
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs984834507
MyVariant Identifiers: chr6:g.143806252A>C (hg19) chr6:g.143485115A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485115A>C , CM000668.2:g.143485115A>C GRCh38
NC_000006.11:g.143806252A>C , CM000668.1:g.143806252A>C GRCh37
NC_000006.10:g.143847945A>C NCBI36
NG_008459.1:g.39335A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.942-37A>C MANE Select ENSP00000356563.4:n.942-37A>C
ENST00000367591.4:c.942-37A>C ENSP00000356563.4:n.942-37A>C
ENST00000585848.1:n.44A>C
NM_003630.2:c.942-37A>C NP_003621.1:n.942-37A>C
NM_003630.3:c.942-37A>C MANE Select NP_003621.1:n.942-37A>C
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