Canonical Allele Identifier: CA7506877
Gene: PLA2G4D HGNC NCBI
ClinVar RCV:
RCV004349657
ClinVar Variation:
2600714
dbSNP:
186072813
gnomAD v2:
15:42378466 A / C
gnomAD v3:
15:42086268 A / C
gnomAD v4:
chr15-42086268-A-C
Joint Max Group AF 0.00051015 (AFR)
Genomes Max Group AF 0.00047741 (AFR)
Exomes Max Group AF 0.00041934 (AFR)
MyVariant.info:
GRCh38 chr15:g.42086268A>C
GRCh37 chr15:g.42378466A>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42086268A>C , CM000677.2:g.42086268A>C GRCh38
NC_000015.9:g.42378466A>C , CM000677.1:g.42378466A>C GRCh37
NC_000015.8:g.40165758A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290472.4:c.332T>G MANE Select ENSP00000290472.3:p.Ile111Ser
ENST00000290472.3:c.332T>G ENSP00000290472.3:p.Ile111Ser
NM_178034.3:c.332T>G NP_828848.3:p.Ile111Ser
XM_011521467.1:c.164T>G XP_011519769.1:p.Ile55Ser
XR_931798.1:n.432T>G
XM_011521467.2:c.164T>G XP_011519769.1:p.Ile55Ser
XR_931798.2:n.432T>G
NM_178034.4:c.332T>G MANE Select NP_828848.3:p.Ile111Ser
Search 100 bp 5'
Search 100 bp 3'