Canonical Allele Identifier: CA452462564
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1780298973
gnomAD v4: 6-143485158-C-T
MyVariant Identifiers: chr6:g.143806295C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485158C>T , CM000668.2:g.143485158C>T GRCh38
NC_000006.11:g.143806295C>T , CM000668.1:g.143806295C>T GRCh37
NC_000006.10:g.143847988C>T NCBI36
NG_008459.1:g.39378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.948C>T MANE Select ENSP00000356563.4:p.Ser316=
ENST00000367591.4:c.948C>T ENSP00000356563.4:p.Ser316=
ENST00000585848.1:n.87C>T
NM_003630.2:c.948C>T NP_003621.1:p.Ser316=
NM_003630.3:c.948C>T MANE Select NP_003621.1:p.Ser316=
Search 100 bp 5'
Search 100 bp 3'