Canonical Allele Identifier: CA365887591
Gene: PEX3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485223G>C , CM000668.2:g.143485223G>C GRCh38
NC_000006.11:g.143806360G>C , CM000668.1:g.143806360G>C GRCh37
NC_000006.10:g.143848053G>C NCBI36
NG_008459.1:g.39443G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1013G>C MANE Select ENSP00000356563.4:p.Ser338Thr
ENST00000367591.4:c.1013G>C ENSP00000356563.4:p.Ser338Thr
ENST00000585848.1:n.152G>C
NM_003630.2:c.1013G>C NP_003621.1:p.Ser338Thr
NM_003630.3:c.1013G>C MANE Select NP_003621.1:p.Ser338Thr