Canonical Allele Identifier: CA339184428

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 989290
• ClinVar RCV Id: RCV001270783
• dbSNP Id: rs1348258521
• gnomAD v2: 1-27105643-A-G
• gnomAD v4: 1-26779152-A-G
• MyVariant Identifiers: chr1:g.27105643A>G (hg19) ; chr1:g.26779152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779152A>G , CM000663.2:g.26779152A>G	GRCh38
NC_000001.10:g.27105643A>G , CM000663.1:g.27105643A>G	GRCh37
NC_000001.9:g.26978230A>G	NCBI36
NG_029965.1:g.88122A>G , LRG_875:g.88122A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5254A>G MANE Select	ENSP00000320485.7:p.Lys1752Glu
ENST00000374152.7:c.4105A>G	ENSP00000363267.2:p.Lys1369Glu
ENST00000430799.7:c.4102A>G	ENSP00000390317.3:p.Lys1368Glu
ENST00000466382.2:c.671A>G
ENST00000636219.1:c.4108A>G	ENSP00000489842.1:p.Lys1370Glu
ENST00000637788.1:n.1054A>G
ENST00000324856.11:c.5254A>G	ENSP00000320485.7:p.Lys1752Glu
ENST00000374152.6:c.4105A>G	ENSP00000363267.2:p.Lys1369Glu
ENST00000430799.6:c.1943A>G
ENST00000457599.6:c.4603A>G	ENSP00000387636.2:p.Lys1535Glu
ENST00000466382.1:c.671A>G
ENST00000532781.1:c.752A>G
NM_006015.4:c.5254A>G , LRG_875t1:c.5254A>G	NP_006006.3:p.Lys1752Glu
NM_139135.2:c.4603A>G	NP_624361.1:p.Lys1535Glu
NM_006015.5:c.5254A>G	NP_006006.3:p.Lys1752Glu
NM_139135.3:c.4603A>G	NP_624361.1:p.Lys1535Glu
NM_006015.6:c.5254A>G MANE Select	NP_006006.3:p.Lys1752Glu
NM_139135.4:c.4603A>G	NP_624361.1:p.Lys1535Glu