Canonical Allele Identifier: CA339264530

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 976860
• ClinVar RCV Id: RCV001254354
• dbSNP Id: rs1482791997
• gnomAD v3: 1-26696566-G-A
• gnomAD v4: 1-26696566-G-A
• MyVariant Identifiers: chr1:g.27023057G>A (hg19) ; chr1:g.26696566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696566G>A , CM000663.2:g.26696566G>A	GRCh38
NC_000001.10:g.27023057G>A , CM000663.1:g.27023057G>A	GRCh37
NC_000001.9:g.26895644G>A	NCBI36
NG_029965.1:g.5536G>A , LRG_875:g.5536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.163G>A MANE Select	ENSP00000320485.7:p.Gly55Arg
ENST00000430799.7:c.-13+2949G>A	ENSP00000390317.3:n.-13+2949G>A
ENST00000637465.1:c.-13+466G>A	ENSP00000490650.1:n.-13+466G>A
ENST00000324856.11:c.163G>A	ENSP00000320485.7:p.Gly55Arg
ENST00000457599.6:c.163G>A	ENSP00000387636.2:p.Gly55Arg
NM_006015.4:c.163G>A , LRG_875t1:c.163G>A	NP_006006.3:p.Gly55Arg
NM_139135.2:c.163G>A	NP_624361.1:p.Gly55Arg
NM_006015.5:c.163G>A	NP_006006.3:p.Gly55Arg
NM_139135.3:c.163G>A	NP_624361.1:p.Gly55Arg
NM_006015.6:c.163G>A MANE Select	NP_006006.3:p.Gly55Arg
NM_139135.4:c.163G>A	NP_624361.1:p.Gly55Arg