Canonical Allele Identifier: CA339184417

Gene: ARID1A

Linked Data

• dbSNP Id: rs1231581317
• gnomAD v2: 1-27105641-G-A
• gnomAD v4: 1-26779150-G-A
• COSMIC: COSM5567539
• MyVariant Identifiers: chr1:g.27105641G>A (hg19) ; chr1:g.26779150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779150G>A , CM000663.2:g.26779150G>A	GRCh38
NC_000001.10:g.27105641G>A , CM000663.1:g.27105641G>A	GRCh37
NC_000001.9:g.26978228G>A	NCBI36
NG_029965.1:g.88120G>A , LRG_875:g.88120G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5252G>A MANE Select	ENSP00000320485.7:p.Ser1751Asn
ENST00000374152.7:c.4103G>A	ENSP00000363267.2:p.Ser1368Asn
ENST00000430799.7:c.4100G>A	ENSP00000390317.3:p.Ser1367Asn
ENST00000466382.2:c.669G>A
ENST00000636219.1:c.4106G>A	ENSP00000489842.1:p.Ser1369Asn
ENST00000637788.1:n.1052G>A
ENST00000324856.11:c.5252G>A	ENSP00000320485.7:p.Ser1751Asn
ENST00000374152.6:c.4103G>A	ENSP00000363267.2:p.Ser1368Asn
ENST00000430799.6:c.1941G>A
ENST00000457599.6:c.4601G>A	ENSP00000387636.2:p.Ser1534Asn
ENST00000466382.1:c.669G>A
ENST00000532781.1:c.750G>A
NM_006015.4:c.5252G>A , LRG_875t1:c.5252G>A	NP_006006.3:p.Ser1751Asn
NM_139135.2:c.4601G>A	NP_624361.1:p.Ser1534Asn
NM_006015.5:c.5252G>A	NP_006006.3:p.Ser1751Asn
NM_139135.3:c.4601G>A	NP_624361.1:p.Ser1534Asn
NM_006015.6:c.5252G>A MANE Select	NP_006006.3:p.Ser1751Asn
NM_139135.4:c.4601G>A	NP_624361.1:p.Ser1534Asn