Canonical Allele Identifier: CA358134

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 225081
• ClinVar RCV Id: RCV000210642 ; RCV001260884 ; RCV001762456 ; RCV003444021
• dbSNP Id: rs869312956
• MyVariant Identifiers: chr1:g.27106621G>A (hg19) ; chr1:g.26780130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26780130G>A , CM000663.2:g.26780130G>A	GRCh38
NC_000001.10:g.27106621G>A , CM000663.1:g.27106621G>A	GRCh37
NC_000001.9:g.26979208G>A	NCBI36
NG_029965.1:g.89100G>A , LRG_875:g.89100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.6232G>A MANE Select	ENSP00000320485.7:p.Glu2078Lys
ENST00000374152.7:c.5083G>A	ENSP00000363267.2:p.Glu1695Lys
ENST00000430799.7:c.5080G>A	ENSP00000390317.3:p.Glu1694Lys
ENST00000466382.2:c.1649G>A
ENST00000636219.1:c.5086G>A	ENSP00000489842.1:p.Glu1696Lys
ENST00000637788.1:n.2032G>A
ENST00000324856.11:c.6232G>A	ENSP00000320485.7:p.Glu2078Lys
ENST00000374152.6:c.5083G>A	ENSP00000363267.2:p.Glu1695Lys
ENST00000430799.6:c.2921G>A
ENST00000457599.6:c.5581G>A	ENSP00000387636.2:p.Glu1861Lys
ENST00000466382.1:c.1649G>A
ENST00000532781.1:c.1730G>A
NM_006015.4:c.6232G>A , LRG_875t1:c.6232G>A	NP_006006.3:p.Glu2078Lys
NM_139135.2:c.5581G>A	NP_624361.1:p.Glu1861Lys
NM_006015.5:c.6232G>A	NP_006006.3:p.Glu2078Lys
NM_139135.3:c.5581G>A	NP_624361.1:p.Glu1861Lys
NM_006015.6:c.6232G>A MANE Select	NP_006006.3:p.Glu2078Lys
NM_139135.4:c.5581G>A	NP_624361.1:p.Glu1861Lys