Canonical Allele Identifier: CA19640612

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1186769
• ClinVar RCV Id: RCV001545977 ; RCV003966168
• dbSNP Id: rs922780561
• gnomAD v2: 1-27023299-T-G
• gnomAD v3: 1-26696808-T-G
• gnomAD v4: 1-26696808-T-G
• MyVariant Identifiers: chr1:g.27023299T>G (hg19) ; chr1:g.26696808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696808T>G , CM000663.2:g.26696808T>G	GRCh38
NC_000001.10:g.27023299T>G , CM000663.1:g.27023299T>G	GRCh37
NC_000001.9:g.26895886T>G	NCBI36
NG_029965.1:g.5778T>G , LRG_875:g.5778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.405T>G MANE Select	ENSP00000320485.7:p.Pro135=
ENST00000430799.7:c.-13+3191T>G	ENSP00000390317.3:n.-13+3191T>G
ENST00000637465.1:c.-13+708T>G	ENSP00000490650.1:n.-13+708T>G
ENST00000324856.11:c.405T>G	ENSP00000320485.7:p.Pro135=
ENST00000457599.6:c.405T>G	ENSP00000387636.2:p.Pro135=
NM_006015.4:c.405T>G , LRG_875t1:c.405T>G	NP_006006.3:p.Pro135=
NM_139135.2:c.405T>G	NP_624361.1:p.Pro135=
NM_006015.5:c.405T>G	NP_006006.3:p.Pro135=
NM_139135.3:c.405T>G	NP_624361.1:p.Pro135=
NM_006015.6:c.405T>G MANE Select	NP_006006.3:p.Pro135=
NM_139135.4:c.405T>G	NP_624361.1:p.Pro135=