Canonical Allele Identifier: CA339264896

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 2439162
• ClinVar RCV Id: RCV003141497
• dbSNP Id: rs1308658460
• gnomAD v3: 1-26696737-G-A
• gnomAD v4: 1-26696737-G-A
• MyVariant Identifiers: chr1:g.27023228G>A (hg19) ; chr1:g.26696737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696737G>A , CM000663.2:g.26696737G>A	GRCh38
NC_000001.10:g.27023228G>A , CM000663.1:g.27023228G>A	GRCh37
NC_000001.9:g.26895815G>A	NCBI36
NG_029965.1:g.5707G>A , LRG_875:g.5707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.334G>A MANE Select	ENSP00000320485.7:p.Ala112Thr
ENST00000430799.7:c.-13+3120G>A	ENSP00000390317.3:n.-13+3120G>A
ENST00000637465.1:c.-13+637G>A	ENSP00000490650.1:n.-13+637G>A
ENST00000324856.11:c.334G>A	ENSP00000320485.7:p.Ala112Thr
ENST00000457599.6:c.334G>A	ENSP00000387636.2:p.Ala112Thr
NM_006015.4:c.334G>A , LRG_875t1:c.334G>A	NP_006006.3:p.Ala112Thr
NM_139135.2:c.334G>A	NP_624361.1:p.Ala112Thr
NM_006015.5:c.334G>A	NP_006006.3:p.Ala112Thr
NM_139135.3:c.334G>A	NP_624361.1:p.Ala112Thr
NM_006015.6:c.334G>A MANE Select	NP_006006.3:p.Ala112Thr
NM_139135.4:c.334G>A	NP_624361.1:p.Ala112Thr