Canonical Allele Identifier: CA1300245

Gene: PLA2G4A

Linked Data

• ClinVar Variation Id: 765594
• ClinVar RCV Id: RCV000944031
• dbSNP Id: rs150610130
• ExAC: 1:186925434 C / A
• gnomAD v2: 1-186925434-C-A
• gnomAD v3: 1-186956302-C-A
• gnomAD v4: 1-186956302-C-A
• MyVariant Identifiers: chr1:g.186925434C>A (hg19) ; chr1:g.186956302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186956302C>A , CM000663.2:g.186956302C>A	GRCh38
NC_000001.10:g.186925434C>A , CM000663.1:g.186925434C>A	GRCh37
NC_000001.9:g.185192057C>A	NCBI36
NG_012203.1:g.132403C>A
NG_012203.2:g.132403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367466.4:c.1537C>A MANE Select	ENSP00000356436.3:p.Gln513Lys
ENST00000367466.3:c.1537C>A	ENSP00000356436.3:p.Gln513Lys
NM_001311193.1:c.1357C>A	NP_001298122.1:p.Gln453Lys
NM_024420.2:c.1537C>A	NP_077734.1:p.Gln513Lys
XM_005245267.2:c.1426C>A	XP_005245324.1:p.Gln476Lys
XM_011509641.1:c.1558C>A	XP_011507943.1:p.Gln520Lys
XM_011509642.1:c.1537C>A	XP_011507944.1:p.Gln513Lys
XM_011509643.1:c.1537C>A	XP_011507945.1:p.Gln513Lys
XR_921838.1:n.1477+121C>A
XM_005245267.4:c.1552C>A	XP_005245324.2:p.Gln518Lys
XM_011509642.2:c.1537C>A	XP_011507944.1:p.Gln513Lys
NM_001311193.2:c.1357C>A	NP_001298122.2:p.Gln453Lys
NM_024420.3:c.1537C>A MANE Select	NP_077734.2:p.Gln513Lys