Canonical Allele Identifier: CA19815226

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2420226
• ClinVar RCV Id: RCV003118751
• dbSNP Id: rs1036772020
• gnomAD v2: 1-27105703-A-G
• gnomAD v3: 1-26779212-A-G
• gnomAD v4: 1-26779212-A-G
• MyVariant Identifiers: chr1:g.27105703A>G (hg19) ; chr1:g.26779212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779212A>G , CM000663.2:g.26779212A>G	GRCh38
NC_000001.10:g.27105703A>G , CM000663.1:g.27105703A>G	GRCh37
NC_000001.9:g.26978290A>G	NCBI36
NG_029965.1:g.88182A>G , LRG_875:g.88182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5314A>G MANE Select	ENSP00000320485.7:p.Lys1772Glu
ENST00000374152.7:c.4165A>G	ENSP00000363267.2:p.Lys1389Glu
ENST00000430799.7:c.4162A>G	ENSP00000390317.3:p.Lys1388Glu
ENST00000466382.2:c.731A>G
ENST00000636219.1:c.4168A>G	ENSP00000489842.1:p.Lys1390Glu
ENST00000637788.1:n.1114A>G
ENST00000324856.11:c.5314A>G	ENSP00000320485.7:p.Lys1772Glu
ENST00000374152.6:c.4165A>G	ENSP00000363267.2:p.Lys1389Glu
ENST00000430799.6:c.2003A>G
ENST00000457599.6:c.4663A>G	ENSP00000387636.2:p.Lys1555Glu
ENST00000466382.1:c.731A>G
ENST00000532781.1:c.812A>G
NM_006015.4:c.5314A>G , LRG_875t1:c.5314A>G	NP_006006.3:p.Lys1772Glu
NM_139135.2:c.4663A>G	NP_624361.1:p.Lys1555Glu
NM_006015.5:c.5314A>G	NP_006006.3:p.Lys1772Glu
NM_139135.3:c.4663A>G	NP_624361.1:p.Lys1555Glu
NM_006015.6:c.5314A>G MANE Select	NP_006006.3:p.Lys1772Glu
NM_139135.4:c.4663A>G	NP_624361.1:p.Lys1555Glu