Canonical Allele Identifier: CA7506719

Gene: PLA2G4D

Linked Data

• ClinVar Variation Id: 2645234
• ClinVar RCV Id: RCV003400900
• dbSNP Id: rs556646644
• ExAC: 15:42375507 C / G
• gnomAD v2: 15-42375507-C-G
• gnomAD v3: 15-42083309-C-G
• gnomAD v4: 15-42083309-C-G
• MyVariant Identifiers: chr15:g.42375507C>G (hg19) ; chr15:g.42083309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42083309C>G , CM000677.2:g.42083309C>G	GRCh38
NC_000015.9:g.42375507C>G , CM000677.1:g.42375507C>G	GRCh37
NC_000015.8:g.40162799C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290472.4:c.561G>C MANE Select	ENSP00000290472.3:p.Leu187=
ENST00000290472.3:c.561G>C	ENSP00000290472.3:p.Leu187=
ENST00000560132.1:n.349G>C
NM_178034.3:c.561G>C	NP_828848.3:p.Leu187=
XM_011521467.1:c.393G>C	XP_011519769.1:p.Leu131=
XR_931798.1:n.661G>C
XM_011521467.2:c.393G>C	XP_011519769.1:p.Leu131=
XR_931798.2:n.661G>C
NM_178034.4:c.561G>C MANE Select	NP_828848.3:p.Leu187=