Canonical Allele Identifier: CA452462523
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806274G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485137G>T , CM000668.2:g.143485137G>T GRCh38
NC_000006.11:g.143806274G>T , CM000668.1:g.143806274G>T GRCh37
NC_000006.10:g.143847967G>T NCBI36
NG_008459.1:g.39357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-15G>T MANE Select ENSP00000356563.4:n.942-15G>T
ENST00000367591.4:c.942-15G>T ENSP00000356563.4:n.942-15G>T
ENST00000585848.1:n.66G>T
NM_003630.2:c.942-15G>T NP_003621.1:n.942-15G>T
NM_003630.3:c.942-15G>T MANE Select NP_003621.1:n.942-15G>T