Canonical Allele Identifier: CA452462547
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806283T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485146T>C , CM000668.2:g.143485146T>C GRCh38
NC_000006.11:g.143806283T>C , CM000668.1:g.143806283T>C GRCh37
NC_000006.10:g.143847976T>C NCBI36
NG_008459.1:g.39366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-6T>C MANE Select ENSP00000356563.4:n.942-6T>C
ENST00000367591.4:c.942-6T>C ENSP00000356563.4:n.942-6T>C
ENST00000585848.1:n.75T>C
NM_003630.2:c.942-6T>C NP_003621.1:n.942-6T>C
NM_003630.3:c.942-6T>C MANE Select NP_003621.1:n.942-6T>C