Canonical Allele Identifier: CA452462599
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806346C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485209C>T , CM000668.2:g.143485209C>T GRCh38
NC_000006.11:g.143806346C>T , CM000668.1:g.143806346C>T GRCh37
NC_000006.10:g.143848039C>T NCBI36
NG_008459.1:g.39429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.999C>T MANE Select ENSP00000356563.4:p.Ile333=
ENST00000367591.4:c.999C>T ENSP00000356563.4:p.Ile333=
ENST00000585848.1:n.138C>T
NM_003630.2:c.999C>T NP_003621.1:p.Ile333=
NM_003630.3:c.999C>T MANE Select NP_003621.1:p.Ile333=