Canonical Allele Identifier: CA10625918
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 355585
ClinVar RCV Id: RCV000399211
dbSNP Id: rs10809
gnomAD v2: 6-143810909-A-G
gnomAD v3: 6-143489772-A-G
gnomAD v4: 6-143489772-A-G
MyVariant Identifiers: chr6:g.143810909A>G (hg19) chr6:g.143489772A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143489772A>G , CM000668.2:g.143489772A>G GRCh38
NC_000006.11:g.143810909A>G , CM000668.1:g.143810909A>G GRCh37
NC_000006.10:g.143852602A>G NCBI36
NG_008459.1:g.43992A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367591.5:c.*546A>G MANE Select ENSP00000356563.4:n.*546A>G
ENST00000367591.4:c.*546A>G ENSP00000356563.4:n.*546A>G
NM_003630.2:c.*546A>G NP_003621.1:n.*546A>G
NM_003630.3:c.*546A>G MANE Select NP_003621.1:n.*546A>G
Search 100 bp 5'
Search 100 bp 3'