Canonical Allele Identifier: CA452462565
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1651478
ClinVar RCV Id: RCV002155769
dbSNP Id: rs1780299210
gnomAD v4: 6-143485161-T-C
MyVariant Identifiers: chr6:g.143806298T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485161T>C , CM000668.2:g.143485161T>C GRCh38
NC_000006.11:g.143806298T>C , CM000668.1:g.143806298T>C GRCh37
NC_000006.10:g.143847991T>C NCBI36
NG_008459.1:g.39381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.951T>C MANE Select ENSP00000356563.4:p.Ser317=
ENST00000367591.4:c.951T>C ENSP00000356563.4:p.Ser317=
ENST00000585848.1:n.90T>C
NM_003630.2:c.951T>C NP_003621.1:p.Ser317=
NM_003630.3:c.951T>C MANE Select NP_003621.1:p.Ser317=
Search 100 bp 5'
Search 100 bp 3'