Canonical Allele Identifier: CA452462615
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485236-T-C
MyVariant Identifiers: chr6:g.143806373T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485236T>C , CM000668.2:g.143485236T>C GRCh38
NC_000006.11:g.143806373T>C , CM000668.1:g.143806373T>C GRCh37
NC_000006.10:g.143848066T>C NCBI36
NG_008459.1:g.39456T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1026T>C MANE Select ENSP00000356563.4:p.Ser342=
ENST00000367591.4:c.1026T>C ENSP00000356563.4:p.Ser342=
ENST00000585848.1:n.165T>C
NM_003630.2:c.1026T>C NP_003621.1:p.Ser342=
NM_003630.3:c.1026T>C MANE Select NP_003621.1:p.Ser342=
Search 100 bp 5'
Search 100 bp 3'