Canonical Allele Identifier: CA452462607
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806361T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485224T>C , CM000668.2:g.143485224T>C GRCh38
NC_000006.11:g.143806361T>C , CM000668.1:g.143806361T>C GRCh37
NC_000006.10:g.143848054T>C NCBI36
NG_008459.1:g.39444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1014T>C MANE Select ENSP00000356563.4:p.Ser338=
ENST00000367591.4:c.1014T>C ENSP00000356563.4:p.Ser338=
ENST00000585848.1:n.153T>C
NM_003630.2:c.1014T>C NP_003621.1:p.Ser338=
NM_003630.3:c.1014T>C MANE Select NP_003621.1:p.Ser338=
Search 100 bp 5'
Search 100 bp 3'