Canonical Allele Identifier: CA365887643
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485229C>A , CM000668.2:g.143485229C>A GRCh38
NC_000006.11:g.143806366C>A , CM000668.1:g.143806366C>A GRCh37
NC_000006.10:g.143848059C>A NCBI36
NG_008459.1:g.39449C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1019C>A MANE Select ENSP00000356563.4:p.Thr340Lys
ENST00000367591.4:c.1019C>A ENSP00000356563.4:p.Thr340Lys
ENST00000585848.1:n.158C>A
NM_003630.2:c.1019C>A NP_003621.1:p.Thr340Lys
NM_003630.3:c.1019C>A MANE Select NP_003621.1:p.Thr340Lys