Canonical Allele Identifier: CA365887207
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485152T>A , CM000668.2:g.143485152T>A GRCh38
NC_000006.11:g.143806289T>A , CM000668.1:g.143806289T>A GRCh37
NC_000006.10:g.143847982T>A NCBI36
NG_008459.1:g.39372T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942T>A MANE Select ENSP00000356563.4:p.Ser314Arg
ENST00000367591.4:c.942T>A ENSP00000356563.4:p.Ser314Arg
ENST00000585848.1:n.81T>A
NM_003630.2:c.942T>A NP_003621.1:p.Ser314Arg
NM_003630.3:c.942T>A MANE Select NP_003621.1:p.Ser314Arg