Canonical Allele Identifier: CA1669274628
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1780303927

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485375C>T , CM000668.2:g.143485375C>T GRCh38
NC_000006.11:g.143806512C>T , CM000668.1:g.143806512C>T GRCh37
NC_000006.10:g.143848205C>T NCBI36
NG_008459.1:g.39595C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+127C>T MANE Select ENSP00000356563.4:n.1038+127C>T
ENST00000367591.4:c.1038+127C>T ENSP00000356563.4:n.1038+127C>T
ENST00000585848.1:n.177+127C>T
NM_003630.2:c.1038+127C>T NP_003621.1:n.1038+127C>T
NM_003630.3:c.1038+127C>T MANE Select NP_003621.1:n.1038+127C>T