Canonical Allele Identifier: CA452462450
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806249G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485112G>C , CM000668.2:g.143485112G>C GRCh38
NC_000006.11:g.143806249G>C , CM000668.1:g.143806249G>C GRCh37
NC_000006.10:g.143847942G>C NCBI36
NG_008459.1:g.39332G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-40G>C MANE Select ENSP00000356563.4:n.942-40G>C
ENST00000367591.4:c.942-40G>C ENSP00000356563.4:n.942-40G>C
ENST00000585848.1:n.41G>C
NM_003630.2:c.942-40G>C NP_003621.1:n.942-40G>C
NM_003630.3:c.942-40G>C MANE Select NP_003621.1:n.942-40G>C