Canonical Allele Identifier: CA33556616

Gene: PLA2G4A

Linked Data

• dbSNP Id: rs578200626
• gnomAD v2: 1-186925293-C-T
• gnomAD v3: 1-186956161-C-T
• gnomAD v4: 1-186956161-C-T
• MyVariant Identifiers: chr1:g.186925293C>T (hg19) ; chr1:g.186956161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186956161C>T , CM000663.2:g.186956161C>T	GRCh38
NC_000001.10:g.186925293C>T , CM000663.1:g.186925293C>T	GRCh37
NC_000001.9:g.185191916C>T	NCBI36
NG_012203.1:g.132262C>T
NG_012203.2:g.132262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367466.4:c.1396C>T MANE Select	ENSP00000356436.3:p.His466Tyr
ENST00000367466.3:c.1396C>T	ENSP00000356436.3:p.His466Tyr
NM_001311193.1:c.1216C>T	NP_001298122.1:p.His406Tyr
NM_024420.2:c.1396C>T	NP_077734.1:p.His466Tyr
XM_005245267.2:c.1285C>T	XP_005245324.1:p.His429Tyr
XM_011509641.1:c.1417C>T	XP_011507943.1:p.His473Tyr
XM_011509642.1:c.1396C>T	XP_011507944.1:p.His466Tyr
XM_011509643.1:c.1396C>T	XP_011507945.1:p.His466Tyr
XR_921838.1:n.1457C>T
XM_005245267.4:c.1411C>T	XP_005245324.2:p.His471Tyr
XM_011509642.2:c.1396C>T	XP_011507944.1:p.His466Tyr
NM_001311193.2:c.1216C>T	NP_001298122.2:p.His406Tyr
NM_024420.3:c.1396C>T MANE Select	NP_077734.2:p.His466Tyr