Canonical Allele Identifier: CA339268001

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1504205
• ClinVar RCV Id: RCV002047738
• dbSNP Id: rs2124788094
• MyVariant Identifiers: chr1:g.27057701A>C (hg19) ; chr1:g.26731210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26731210A>C , CM000663.2:g.26731210A>C	GRCh38
NC_000001.10:g.27057701A>C , CM000663.1:g.27057701A>C	GRCh37
NC_000001.9:g.26930288A>C	NCBI36
NG_029965.1:g.40180A>C , LRG_875:g.40180A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.1409A>C MANE Select	ENSP00000320485.7:p.Tyr470Ser
ENST00000374152.7:c.260A>C	ENSP00000363267.2:p.Tyr87Ser
ENST00000430799.7:c.260A>C	ENSP00000390317.3:p.Tyr87Ser
ENST00000636219.1:c.266A>C	ENSP00000489842.1:p.Tyr89Ser
ENST00000637465.1:c.260A>C	ENSP00000490650.1:p.Tyr87Ser
ENST00000324856.11:c.1409A>C	ENSP00000320485.7:p.Tyr470Ser
ENST00000374152.6:c.260A>C	ENSP00000363267.2:p.Tyr87Ser
ENST00000457599.6:c.1409A>C	ENSP00000387636.2:p.Tyr470Ser
ENST00000524572.1:c.260A>C	ENSP00000432473.1:p.Tyr87Ser
ENST00000615191.4:c.260A>C	ENSP00000478955.1:p.Tyr87Ser
NM_006015.4:c.1409A>C , LRG_875t1:c.1409A>C	NP_006006.3:p.Tyr470Ser
NM_139135.2:c.1409A>C	NP_624361.1:p.Tyr470Ser
NM_006015.5:c.1409A>C	NP_006006.3:p.Tyr470Ser
NM_139135.3:c.1409A>C	NP_624361.1:p.Tyr470Ser
NM_006015.6:c.1409A>C MANE Select	NP_006006.3:p.Tyr470Ser
NM_139135.4:c.1409A>C	NP_624361.1:p.Tyr470Ser