Canonical Allele Identifier: CA1669274585
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1780302793
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485305A>C , CM000668.2:g.143485305A>C GRCh38
NC_000006.11:g.143806442A>C , CM000668.1:g.143806442A>C GRCh37
NC_000006.10:g.143848135A>C NCBI36
NG_008459.1:g.39525A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+57A>C MANE Select ENSP00000356563.4:n.1038+57A>C
ENST00000367591.4:c.1038+57A>C ENSP00000356563.4:n.1038+57A>C
ENST00000585848.1:n.177+57A>C
NM_003630.2:c.1038+57A>C NP_003621.1:n.1038+57A>C
NM_003630.3:c.1038+57A>C MANE Select NP_003621.1:n.1038+57A>C
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